Forbes D Porter

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. doi request reprint Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management
    Forbes D Porter
    Section on Molecular Dysmorphology, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA
    Eur J Hum Genet 16:535-41. 2008
  2. ncbi request reprint Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts
    Christopher A Wassif
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 85:96-107. 2005
  3. pmc Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
    Josep Marcos
    Children s Hospital Oakland Research Institute, Oakland, CA 94609 1673, USA
    Steroids 72:802-8. 2007
  4. ncbi request reprint Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome
    Halima Goodwin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA
    Am J Med Genet A 146:208-11. 2008
  5. pmc Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome
    Grace Koo
    Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, DHHS, Bethesda, MD, USA
    Am J Med Genet A 152:2094-8. 2010
  6. pmc Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse
    Jiaxi Ding
    Department of Genetics Case Western Reserve University, Cleveland, OH, USA
    BMC Dev Biol 8:120. 2008
  7. ncbi request reprint Human malformation syndromes due to inborn errors of cholesterol synthesis
    Forbes D Porter
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Curr Opin Pediatr 15:607-13. 2003
  8. pmc Cholesterol precursors and facial clefting
    Forbes D Porter
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA
    J Clin Invest 116:2322-5. 2006
  9. pmc Malformation syndromes caused by disorders of cholesterol synthesis
    Forbes D Porter
    Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Lipid Res 52:6-34. 2011
  10. pmc Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency
    Xiao Sheng Jiang
    NICHD, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892, USA
    Mol Cell Proteomics 9:1461-75. 2010

Collaborators

Detail Information

Publications48

  1. doi request reprint Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management
    Forbes D Porter
    Section on Molecular Dysmorphology, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA
    Eur J Hum Genet 16:535-41. 2008
    ..This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS...
  2. ncbi request reprint Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts
    Christopher A Wassif
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 85:96-107. 2005
    ....
  3. pmc Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
    Josep Marcos
    Children s Hospital Oakland Research Institute, Oakland, CA 94609 1673, USA
    Steroids 72:802-8. 2007
    ..Finally, determining the mechanism by which these "SLOS" mice tend to normalize may provide insight into the future development of therapy...
  4. ncbi request reprint Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome
    Halima Goodwin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA
    Am J Med Genet A 146:208-11. 2008
    ..These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule...
  5. pmc Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome
    Grace Koo
    Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, DHHS, Bethesda, MD, USA
    Am J Med Genet A 152:2094-8. 2010
    ..This unique case underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis...
  6. pmc Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse
    Jiaxi Ding
    Department of Genetics Case Western Reserve University, Cleveland, OH, USA
    BMC Dev Biol 8:120. 2008
    ..Primordial germ cells (PGCs) are the embryonic precursors of the sperm and eggs. Environmental or genetic defects that alter PGC development can impair fertility or cause formation of germ cell tumors...
  7. ncbi request reprint Human malformation syndromes due to inborn errors of cholesterol synthesis
    Forbes D Porter
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Curr Opin Pediatr 15:607-13. 2003
    ..These disorders represent the first true merging of dysmorphology with biochemical genetics...
  8. pmc Cholesterol precursors and facial clefting
    Forbes D Porter
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA
    J Clin Invest 116:2322-5. 2006
    ..In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356)...
  9. pmc Malformation syndromes caused by disorders of cholesterol synthesis
    Forbes D Porter
    Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Lipid Res 52:6-34. 2011
    ....
  10. pmc Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency
    Xiao Sheng Jiang
    NICHD, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892, USA
    Mol Cell Proteomics 9:1461-75. 2010
    ..This proteomics study has provided insight into the pathophysiological mechanisms of SLOS and lathosterolosis, and understanding these pathophysiological changes will help guide clinical therapy for SLOS and lathosterolosis...
  11. ncbi request reprint HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency
    Christopher A Wassif
    Heritable Disorders Branch, NICHD, OD, NIH, DHHS, Bethesda, MD 20892, USA
    Hum Mol Genet 16:1176-87. 2007
    ....
  12. ncbi request reprint Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
    Lina S Correa-Cerro
    Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
    Hum Mol Genet 15:839-51. 2006
    ....
  13. ncbi request reprint Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature
    MARJORIE C GONDRE-LEWIS
    Section on Cellular Neurobiology, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA
    J Cell Sci 119:1876-85. 2006
    ....
  14. ncbi request reprint Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
    Patrycja A Krakowiak
    Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 12:1631-41. 2003
    ..We identified a homozygous mutation of SC5D (137A>C, Y46S) in this patient. An unique aspect of the lathosterolosis phenotype is the combination of a malformation syndrome with an intracellular storage defect...
  15. pmc Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness
    Martina Kovarova
    Molecular Inflammation Section, Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Exp Med 203:1161-71. 2006
    ..These findings provide the first evidence of lipid raft dysfunction in SLOS and may explain the observed association of allergy with SLOS...
  16. pmc Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1
    Stephanie M Cologna
    Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld 10, Rm 9D42, 10 Center Dr, Bethesda, MD, 20892, USA
    J Inherit Metab Dis 37:83-92. 2014
    ..The identification of inflammatory markers with altered levels in the cerebrospinal fluid of NPC1 patients may provide a means to follow secondary events in NPC1 disease during therapeutic trials. ..
  17. pmc Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications
    Xiao Sheng Jiang
    Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 19:1347-57. 2010
    ..Developmental abnormalities of neuronal process formation may contribute to the neurocognitive deficits found in SLOS and may represent a potential target for therapeutic intervention...
  18. pmc Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1
    Rao Fu
    Department of Health and Human Services, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 22:3508-23. 2013
    ....
  19. pmc Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight
    Stephanie M Cologna
    Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
    PLoS ONE 7:e47845. 2012
    ..This study provides an initial report of dysregulated proteins in NPC1 which will assist with further investigation of NPC1 pathology and facilitate implementation of therapeutic trials...
  20. pmc Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome
    Marie L Lindegaard
    Section on Molecular Dysmorphology, Eunice Kennedy Schriver National Institute of Child Health and Human Development, National Heart, Lung and Blood Institute, NIH, DHHS, Bethesda, MD, USA
    Hum Mol Genet 17:3806-13. 2008
    ..Furthermore, we show, as a proof of principle, that modulating maternal-fetal cholesterol transport has potential for in utero therapy of SLOS...
  21. pmc δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders
    Miao Xu
    National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 287:39349-60. 2012
    ..Our data suggest that regulated exocytosis may represent a potential therapeutic target for reduction of lysosomal storage in this class of diseases...
  22. ncbi request reprint 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway
    Christopher A Wassif
    National Institute of Child Health and Human Development, National Institute of Health Bethesda, Maryland, MD 20892, USA
    Steroids 68:497-502. 2003
    ..Thus, patients with SLOS have increased levels of metabolites derived from intermediates in cholesterol synthesis that are biologically active and may contribute to the regulation of cholesterol synthesis in vivo...
  23. pmc Malformation syndromes due to inborn errors of cholesterol synthesis
    Forbes D Porter
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 110:715-24. 2002
  24. ncbi request reprint Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome
    Zenaide M N Quezado
    Department of Anesthesia, Children s National Medical Center, George Washington University, Washington, DC, USA
    Anesthesiology 97:1015-9. 2002
  25. pmc A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease
    Jorge L Rodriguez-Gil
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Mol Genet Metab 110:188-90. 2013
    ..This is a novel assay for NPC1 individuals that may be predictive of NPC1 disease progression and broadly applicable to other lysosomal disorders. ..
  26. pmc Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures
    Ning Miao
    Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA
    J Child Neurol 27:1541-6. 2012
    ..Furthermore, it is important for delivery of safe anesthesia that there is communication among care team members so that all involved understand the disease manifestation spectrum...
  27. pmc Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1
    Celine V M Cluzeau
    Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892, USA
    Hum Mol Genet 21:3632-46. 2012
    ..Both LGALS3 and CTSD have the potential to aid in diagnosis and serve as biomarkers to monitor efficacy in therapeutic trials...
  28. ncbi request reprint 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome
    Lina S Correa-Cerro
    Unit on Molecular Dysmorphology, Heritable Disorders Branch, Department of Health and Human Services, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 84:112-26. 2005
    ..This paper reviews the biochemical, molecular, and mutational aspects of DHCR7...
  29. pmc Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome
    Ryan W Y Lee
    Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 161:2407-19. 2013
    ..Further studies are required to examine the relationship between structural brain abnormalities and neurodevelopmental disability in SLOS...
  30. pmc Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1
    Rao Fu
    School of Basic Medical Sciences, Peking University, Beijing, China
    Am J Med Genet A 158:2775-80. 2012
    ..These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology...
  31. pmc Growth charts for individuals with Smith-Lemli-Opitz syndrome
    Ryan W Y Lee
    National Institutes of Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
    Am J Med Genet A 158:2707-13. 2012
    ..This study represents comprehensive anthropometric data from the largest cohort available, and proposes growth charts for widespread use in the management and study of individuals with SLOS...
  32. pmc A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
    Wayne A Cabral
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 14:543-51. 2012
    ..We aimed to determine the frequency of carriers for this mutation among African Americans and West Africans, and the mutation origin and age...
  33. pmc Adrenal function in Smith-Lemli-Opitz syndrome
    Simona E Bianconi
    Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 155:2732-8. 2011
    ..However, we were able to show that our patients with SLOS had an adequate glucocorticoid response, and thus, in mild to moderate cases of SLOS stress steroid coverage may not be warranted...
  34. pmc Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
    Forbes D Porter
    Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Sci Transl Med 2:56ra81. 2010
    ..These cholesterol oxidation products are robust blood-based biochemical markers for NPC1 disease that may prove transformative for diagnosis and treatment of this disorder, and as outcome measures to monitor response to therapy...
  35. doi request reprint Auditory phenotype of niemann-pick disease, type c1
    Kelly A King
    1Department of Health and Human Services, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 2Department of Hearing and Speech Sciences, University of Maryland College Park, College Park, MD 3Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 4Department of Human Development and Quantitative Methodology, University of Maryland College Park, College Park, MD
    Ear Hear 35:110-7. 2014
    ..g., 2-hydroxypropyl-ß-cyclodextrin) may be more appropriately monitored and understood...
  36. pmc Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue
    Stephanie M J Fliedner
    Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e40949. 2012
    ..This study provides new insight into pathogenic mechanisms in aggressive human PHEOs/PGLs, which may lead to identifying new diagnostic and prognostic markers in the near future...
  37. pmc Oxidative stress in Niemann-Pick disease, type C
    Rao Fu
    Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, MD 20892, USA
    Mol Genet Metab 101:214-8. 2010
    ....
  38. ncbi request reprint Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts
    Christopher A Wassif
    Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 75:325-34. 2002
    ..We propose that 7-DHC may directly or indirectly inhibit the function of the NPC protein through its sterol-sensing domain (SSD), and that 7-DHC may perturb the function of other SSD containing proteins in SLOS...
  39. pmc LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth
    Itai Tzchori
    Section on Mammalian Molecular Genetics, Laboratory of Mammalian Genes and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
    Development 136:1375-85. 2009
    ....
  40. ncbi request reprint Smith-Lemli-Opitz syndrome and autism spectrum disorder
    Irena Bukelis
    Center for Genetic Disorders of Cognition and Behavior, Department of Psychiatry, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 3901 Greenspring Ave, Baltimore, MD 21211, USA
    Am J Psychiatry 164:1655-61. 2007
  41. ncbi request reprint Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome
    Isabelle Weinhofer
    Center for Brain Research, Medical University of Vienna, Vienna, Austria
    Biochem Biophys Res Commun 345:205-9. 2006
    ..Our results implicate peroxisomes in cholesterol biosynthesis but provide no link to phenotypic variation in SLOS...
  42. ncbi request reprint A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
    Michael K Cooper
    Department of Molecular Biology and Genetics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 33:508-13. 2003
    ..We further find that sterol depletion affects the activity of Smoothened (Smo), an essential component of the Hh signal transduction apparatus...
  43. ncbi request reprint Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome)
    Cedric Shackleton
    Children s Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
    J Steroid Biochem Mol Biol 82:225-32. 2002
    ..We have yet to prove the activity of adrenal 21-hydroxylase, 11beta-hydroxylase or 5alpha-reductase towards 7- or 8-dehydroprecursors...
  44. ncbi request reprint Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans
    Brooke S Wright
    Am J Med Genet A 120:139-41. 2003
  45. ncbi request reprint The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production
    Josep Marcos
    Children s Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
    Steroids 69:51-60. 2004
    ..Even though the new neuroactive steroids identified were unlikely to have been formed in the brain, it is likely that mechanisms for their synthesis are operable in this organ...
  46. ncbi request reprint Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers
    Aleksandra Lalovic
    McGill Group for Suicide Studies, Douglas Hospital Research Centre, 6875 LaSalle Blvd, Verdun, Quebec H4H 1R3, Canada
    Am J Psychiatry 161:2123-6. 2004
    ..This population has a partial deficiency in 7-dehydrocholesterol reductase (DHCR7), the enzyme that catalyzes the last step in cholesterol biosynthesis...
  47. ncbi request reprint Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)
    John S Waye
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Hum Mutat 26:59. 2005
    ..Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations. Here, we report the identification of nine novel missense mutations of the DHCR7 gene...
  48. ncbi request reprint Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, Houston 77030, USA
    Am J Med Genet A 138:56-60. 2005
    ....