John M Opitz

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Scott Rogers on dinosaur behavior, in: the annals of morphology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 134:357-8. 2005
  2. doi request reprint The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote
    John M Opitz
    American Journal of Medical Genetics, University of Utah, 419 Wakara Way, Ste 213, Salt Lake City, UT 84108, USA
    Am J Med Genet C Semin Med Genet 160:242-9. 2012
  3. pmc Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report
    Laura Travan
    Neonatal Intensive Care Unit, Institute for Maternal and Child Health Burlo Garofolo, Via dell Istria 65 1, 34100, Trieste, Italy
    J Med Case Reports 5:222. 2011
  4. ncbi request reprint The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008
    John M Opitz
    University of Utah, Salt Lake City, UT 84132, USA
    Adv Pediatr 55:123-70. 2008
  5. doi request reprint Invited editorial comment: further reflections on gastroschisis
    John M Opitz
    School of Medicine, University of Utah, 50 N, Mario Capecchi Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 148:192-8. 2008
  6. ncbi request reprint Goethe's bone and the beginnings of morphology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City 84132, USA
    Am J Med Genet A 126:1-8. 2004
  7. ncbi request reprint Development: clinical and evolutionary considerations
    John M Opitz
    Department of Pediatrics Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:2853-61. 2007
  8. ncbi request reprint A chicken consultation with ramifications
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 134:117-28. 2005
  9. ncbi request reprint Meckel on developmental pathology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, and Pathology, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:115-28. 2006
  10. ncbi request reprint Invited comment: gastroschisis
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Am J Med Genet A 143:635-8. 2007

Detail Information

Publications60

  1. ncbi request reprint Scott Rogers on dinosaur behavior, in: the annals of morphology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 134:357-8. 2005
  2. doi request reprint The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote
    John M Opitz
    American Journal of Medical Genetics, University of Utah, 419 Wakara Way, Ste 213, Salt Lake City, UT 84108, USA
    Am J Med Genet C Semin Med Genet 160:242-9. 2012
    ..The discovery of the role of cholesterol in the synthesis of the morphogen sonic hedgehog has greatly advanced our understanding of mammalian development...
  3. pmc Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report
    Laura Travan
    Neonatal Intensive Care Unit, Institute for Maternal and Child Health Burlo Garofolo, Via dell Istria 65 1, 34100, Trieste, Italy
    J Med Case Reports 5:222. 2011
    ..OTCS is associated with a high mortality rate...
  4. ncbi request reprint The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008
    John M Opitz
    University of Utah, Salt Lake City, UT 84132, USA
    Adv Pediatr 55:123-70. 2008
    ..As they say in baseball, it is time at long last for the professionals "to step up to the plate."..
  5. doi request reprint Invited editorial comment: further reflections on gastroschisis
    John M Opitz
    School of Medicine, University of Utah, 50 N, Mario Capecchi Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 148:192-8. 2008
  6. ncbi request reprint Goethe's bone and the beginnings of morphology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City 84132, USA
    Am J Med Genet A 126:1-8. 2004
    ....
  7. ncbi request reprint Development: clinical and evolutionary considerations
    John M Opitz
    Department of Pediatrics Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:2853-61. 2007
    ..It is inconceivable how such an understanding can allow anyone to deny the reality of evolution and its implications for the antiquity of the earth, and its biosphere and the vulnerability of all species, humans included, for extinction...
  8. ncbi request reprint A chicken consultation with ramifications
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 134:117-28. 2005
    ....
  9. ncbi request reprint Meckel on developmental pathology
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, and Pathology, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:115-28. 2006
    ..In that case, Darwin and Haeckel might have even had the courtesy of a tip-of-the-hat in Meckel's direction...
  10. ncbi request reprint Invited comment: gastroschisis
    John M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Am J Med Genet A 143:635-8. 2007
  11. ncbi request reprint Mortality and pathological findings in C (Opitz trigonocephaly) syndrome
    John M Opitz
    Pediatrics Medical Genetics, Pathology, Obstetrics and Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Fetal Pediatr Pathol 25:211-31. 2006
    ..g., mice) to further understanding of pathogenesis...
  12. ncbi request reprint Colophon: vere dignum et justum est ... an unedited MS
    John M Opitz
    Pediatrics Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2150-4. 2006
  13. ncbi request reprint Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions
    John M Opitz
    Pediatrics Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA
    Pediatr Pathol Mol Med 21:153-81. 2002
    ..Thus, developmental pathology plays an integral, vital role in preventive medicine...
  14. ncbi request reprint Comments on biological asymmetry
    J M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet 101:359-69. 2001
    ..In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry...
  15. ncbi request reprint Prenatal death in Fraser syndrome
    Jessica M Comstock
    Department of Pathology, University of Utah, Salt Lake City, 84132, USA
    Fetal Pediatr Pathol 24:223-38. 2005
    ..Older (mostly German) publications, some dating to the 19th century, provide a fascinating historical insight into the process of syndrome delineation...
  16. ncbi request reprint Genitourinary anomalies of pediatric FG syndrome
    James F Smith
    Division of Urology, University of Utah, Salt Lake City, Utah, USA
    J Urol 178:656-9. 2007
    ..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
  17. ncbi request reprint Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?
    Enid Gilbert-Barness
    Department of Pathology, University of South Florida School of Medicine and Tampa General Hospital, Davis Island, Florida, USA
    Fetal Pediatr Pathol 24:331-45. 2005
    ..There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted...
  18. doi request reprint Congenital perineal hernia in a fetus with trisomy 18
    Thora S Steffensen
    Department of Pathology, University of South Florida and Tampa General Hospital, Tampa, Florida 33606, USA
    Fetal Pediatr Pathol 28:95-9. 2009
    ..To our knowledge there are no reported cases of perineal hernia presenting antenatally nor are there reported cases of perineal hernia associated with trisomy 18...
  19. doi request reprint Cervical ribs are more prevalent in stillborn fetuses than in live-born infants and are strongly associated with fetal aneuploidy
    Larissa V Furtado
    Department of Pathology, University of Utah Health Sciences Center, 50 North Medical Drive, Salt Lake City, UT, 84112 USA
    Pediatr Dev Pathol 14:431-7. 2011
    ..Our findings support the hypothesis that cervical ribs are markers for disadvantageous developmental events occurring during blastogenesis and have been subject to strong negative selection during evolution...
  20. doi request reprint Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
    Jessica M Comstock
    Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah, USA
    Am J Med Genet A 152:1822-4. 2010
    ..Gly768Asp) in exon 33 of the COL2A1 gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family...
  21. doi request reprint Premature closure of the foramen ovale secondary to congenital aortic valvular stenosis in a stillborn
    Larissa V Furtado
    University of Utah Health Sciences Center, Department of Pathology, Salt Lake City, Utah 84112, USA
    Fetal Pediatr Pathol 31:43-9. 2012
    ..To the best of our knowledge, this is only the second report on this rare constellation of complex congenital cardiac defects...
  22. doi request reprint Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly
    Larissa V Furtado
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    Fetal Pediatr Pathol 30:397-404. 2011
    ..We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA...
  23. ncbi request reprint RSH (so-called Smith-Lemli-Opitz) syndrome
    J M Opitz
    2100 Primary Children s Medical Center, University of Utah, Salt Lake City 84112 1100, USA
    Curr Opin Pediatr 11:353-62. 1999
    ..Many other defects in this pathway remain to be discovered...
  24. ncbi request reprint The syndromes of Sotos and Weaver: reports and review
    J M Opitz
    Department of Pediatrics, University of Utah, Salt Lake City, USA
    Am J Med Genet 79:294-304. 1998
    ..Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes...
  25. ncbi request reprint RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi
    John M Opitz
    University of Utah, Salt Lake City, Utah
    Am J Med Genet A 140:2385. 2006
  26. ncbi request reprint Documentation of anomalies not previously described in Fryns syndrome
    Sonya Rae Arnold
    Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA
    Am J Med Genet A 116:179-82; discussion 183. 2003
    ..These defects add to our knowledge of the phenotype of Fryns syndrome...
  27. ncbi request reprint Splenogonadal fusion-limb defect "syndrome" and associated malformations
    Fiona McPherson
    Department of Pathology, Tampa General Hospital, Tampa, Florida 33601, USA
    Am J Med Genet A 120:518-22. 2003
    ..We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF...
  28. ncbi request reprint Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusion
    Enid Gilbert-Barness
    Department of Pathology, University of South Florida, Tampa General Hospital, Tampa, Florida 33601, USA
    Am J Med Genet A 116:352-5. 2003
    ..All organs were hypoplastic and autolyzed. The hypoplastic heart had three chambers. The placenta was monochorionic and monoamniotic; barium injection showed a twin-reversal arterial perfusion and entanglement of the umbilical cords...
  29. ncbi request reprint Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs
    David A Wada
    Department of Pathology, University of Utah, Salt Lake City, Utah 84132, USA
    Fetal Pediatr Pathol 23:159-70. 2004
    ..This suggests that there exists a gene for autosomal recessive Marles-Chudley syndrome in the Poynesian population with pleiotropic effects on upper limb development and cardiac histogenesis...
  30. doi request reprint A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia
    Philip D Pallister
    Department of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 155:833-9. 2011
    ....
  31. doi request reprint Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue
    Leslie R Rowe
    Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
    J Mol Diagn 15:466-72. 2013
    ..This study highlights the benefits of using MIP array analysis for identification of genomic alterations in FFPE stillbirth autopsy tissue. ..
  32. doi request reprint Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation
    Lance K Erickson
    Department of Pathology, Primary Children s Medical Center and the University of Utah School of Medicine, Salt Lake City, UT, USA
    Pediatr Dev Pathol 15:137-41. 2012
    ....
  33. ncbi request reprint Fetus-in-fetu form of monozygotic twinning with retroperitoneal teratoma
    Enid Gilbert-Barness
    Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA
    Am J Med Genet A 120:406-12. 2003
    ..We report the third known instance of endoparasitic twinning associated with a benign teratoma at age 1. The host, twin, and teratoma were monozygotic by DNA analysis...
  34. ncbi request reprint Chiari I malformation in patients with FG syndrome
    Oren N Gottfried
    Department of Neurosurgery, University of Utah, USA
    J Neurosurg 103:148-55. 2005
    ..On magnetic resonance (MR) imaging, some patients have evidence of tonsillar ectopia. The authors describe the incidence of Chiari I malformation in patients with FGS and attempt to determine the optimal treatment of these patients...
  35. ncbi request reprint Defects of blastogenesis
    John M Opitz
    University of Utah, 100 N Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA
    Am J Med Genet 115:269-86. 2002
    ..If cause is unknown, the presumption of pleiotropy is less certain, and the fetus/infant may be said to have an "association" with low empiric recurrence risk...
  36. pmc Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    Alan F Rope
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
    Am J Hum Genet 89:28-43. 2011
    ..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
  37. ncbi request reprint CFC syndrome
    Giovanni Neri
    Am J Med Genet A 116:410. 2003
  38. ncbi request reprint FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]
    Sabine Dessay
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 112:6-11. 2002
    ..3. In this region, two potential candidate genes, VCX-A and PRKX, were excluded by sequence analysis of the coding region in patients of the two reported FG families. The search for new candidate genes is in progress...
  39. ncbi request reprint Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
    Klaus W Kjaer
    Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24 4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen N, Denmark
    Am J Med Genet A 127:152-7. 2004
    ..We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations...
  40. ncbi request reprint A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
    ..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
  41. ncbi request reprint Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Clin Dysmorphol 14:127-32. 2005
    ..Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion...
  42. ncbi request reprint A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
    ....
  43. ncbi request reprint The Helena syndromes
    Giovanni Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 140:2007-12. 2006
    ..These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them...
  44. ncbi request reprint Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany
    Luminita Göbbel
    Department of Anatomy and Cell Biology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Am J Med Genet A 143:119-28. 2007
    ..It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich-Turner "phenotype" has been diagnosed...
  45. ncbi request reprint An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 139:221-6. 2005
    ..We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication...
  46. ncbi request reprint A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
    Am J Med Genet A 138:328-39. 2005
    ..Thus, our data have added evidence to the phenotype-genotype correlation previously reported, which was further extended to include lesser involvement of bones in ray 1, 2, and 5...
  47. ncbi request reprint Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia
    Maria Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 67:149-53. 2003
    ..CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated...
  48. ncbi request reprint XK-aprosencephaly and related entities
    G Renzetti
    Department of Pediatrics, University of L Aquila, L Aquila, Italy
    Am J Med Genet A 138:401-10. 2005
    ..No evidence of an encephaloclastic process was found in the autopsied Utah infant...
  49. ncbi request reprint HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg
    Klaus Wilbrandt Kjaer
    Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet 110:116-21. 2002
    ..The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status...
  50. ncbi request reprint Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Am J Med Genet A 137:148-52. 2005
    ..However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition...
  51. ncbi request reprint Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome
    Fiorella Gurrieri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy
    Am J Med Genet A 126:204-7. 2004
    ..This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition...
  52. ncbi request reprint Prenatal death in Smith-Lemli-Opitz/RSH syndrome
    Angelica R Putnam
    Am J Med Genet A 138:61-5. 2005
  53. ncbi request reprint Pseudoaminopterin syndrome and trisomy 9
    David A Stevenson
    Am J Med Genet A 128:217-8. 2004
  54. ncbi request reprint Perrault syndrome: evidence for progressive nervous system involvement
    Agata Fiumara
    Pediatric Neurology, Department of Pediatrics, University of Catania, Italy
    Am J Med Genet A 128:246-9. 2004
    ....
  55. doi request reprint Restrictive dermopathy: report and review
    Pawini Khanna
    Pediatric Pathology, University of South Florida College of Medicine, Tampa, Florida, USA
    Fetal Pediatr Pathol 27:105-18. 2008
    ..The exact pathogenetic mechanisms are still not known. Fewer than 50 cases have been reported. We report on a case of restrictive dermopathy and discuss the differential diagnoses...
  56. ncbi request reprint A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome
    Grace David
    Department of Clinical Genetics, The Children s Hospital, Westmead, Australia
    Am J Med Genet A 130:389-92. 2004
    ..However, as he grew older, his facial profile changed to that typical of Kabuki syndrome...
  57. pmc Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
    Tadashi Kaname
    Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan
    Am J Hum Genet 81:835-41. 2007
    ..Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth...
  58. ncbi request reprint Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 132:1-7. 2005
    ..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...
  59. doi request reprint X-linked congenital ataxia: a new locus maps to Xq25-q27.1
    Ginevra Zanni
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104 Paris, France
    Am J Med Genet A 146:593-600. 2008
    ..2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence...