M Tekin

Summary

Affiliation: Ankara University
Country: Turkey

Publications

  1. ncbi request reprint Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating
    Mustafa Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Hum Mutat 21:552-3. 2003
  2. doi request reprint A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 149:427-30. 2009
  3. ncbi request reprint Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 143:1583-91. 2007
  4. ncbi request reprint Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene
    M Tekin
    Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Ankara 06 100, Turkey
    Genet Couns 14:379-86. 2003
  5. ncbi request reprint The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype
    Mustafa Tekin
    Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey
    Am J Med Genet A 130:284-7. 2004
  6. ncbi request reprint Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 143:875-80. 2007
  7. ncbi request reprint Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
    M Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Clin Genet 67:31-7. 2005
  8. ncbi request reprint A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy
    Mustafa Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 138:6-10. 2005
  9. pmc Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Hum Genet 80:338-44. 2007
  10. ncbi request reprint Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities
    Mustafa Tekin
    Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 70:885-9. 2006

Detail Information

Publications51

  1. ncbi request reprint Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating
    Mustafa Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Hum Mutat 21:552-3. 2003
    ..These results confirm the overwhelming majority of c.35delG in the Turkish deaf individuals as well as the presence of other changes detected in Caucasian and Asian populations...
  2. doi request reprint A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 149:427-30. 2009
    ..Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome...
  3. ncbi request reprint Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 143:1583-91. 2007
    ..Conclusions of this study may be relevant to other populations where consanguineous or assortative mating is present with various frequencies...
  4. ncbi request reprint Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene
    M Tekin
    Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Ankara 06 100, Turkey
    Genet Couns 14:379-86. 2003
    ..GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss...
  5. ncbi request reprint The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype
    Mustafa Tekin
    Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey
    Am J Med Genet A 130:284-7. 2004
    ..Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases...
  6. ncbi request reprint Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 143:875-80. 2007
    ..In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS...
  7. ncbi request reprint Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
    M Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Clin Genet 67:31-7. 2005
    ..Carrier frequencies of 35delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations...
  8. ncbi request reprint A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy
    Mustafa Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet A 138:6-10. 2005
    ..Otoacoustic emissions and auditory brainstem response (ABR) suggested the presence of auditory neuropathy in affected individuals...
  9. pmc Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
    Mustafa Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Hum Genet 80:338-44. 2007
    ..Of particular interest is that the development of the inner ear is completely disturbed at a very early stage--or the otic vesicle is not induced at all--in all of the affected individuals who carried two mutant FGF3 alleles...
  10. ncbi request reprint Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities
    Mustafa Tekin
    Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 70:885-9. 2006
    ..In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome...
  11. ncbi request reprint Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
    M Tekin
    Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Dikimevi, 06100 Ankara, Turkey
    Eur J Pediatr 162:154-8. 2003
    ..CONCLUSION: This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population...
  12. doi request reprint Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
    M Tekin
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Clin Genet 73:554-65. 2008
    ..However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely...
  13. ncbi request reprint 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family
    Mustafa Tekin
    Division of Pediatric Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi 06100, Ankara, Turkey
    Clin Genet 62:84-8. 2002
    ....
  14. ncbi request reprint MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
    M Tekin
    Department of Pediatrics, Ankara University School of Medicine, Turkey
    Clin Genet 57:430-4. 2000
    ..Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF...
  15. ncbi request reprint Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients
    F Yalcinkaya
    Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    QJM 93:681-4. 2000
    ..The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association...
  16. doi request reprint A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
    A Sirmaci
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara
    Clin Genet 75:562-7. 2009
    ..We conclude that p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with ARNSSNHL...
  17. ncbi request reprint Familial Mediterranean fever and acute rheumatic fever: a pathogenetic relationship?
    M Tekin
    Ankara University School of Medicine, Turkey
    Clin Rheumatol 18:446-9. 1999
    ..These percentages were found to be significantly higher in group A1 than in both groups A2 (p<0.01) and B (p<0.01). We concluded that patients with FMF might be more prone to the late complications of streptococcal infections...
  18. ncbi request reprint Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis
    M Tekin
    Department of Pediatrics, Ankara University School of Medicine, Turkey
    Acta Paediatr 89:177-82. 2000
    ..Environmental and/or other genetic factors are possibly involved in the pathogenesis of vasculitis in FMF; elucidation of these mechanisms will help to understand pathogenesis of childhood vasculitides...
  19. ncbi request reprint The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population
    Asli Sirmaci
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara 06100, Turkey
    J Genet 85:213-6. 2006
  20. ncbi request reprint Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes
    Burcu Oztürk Hişmi
    Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 70:1687-94. 2006
    ..Since ethnic difference may have an effect for the degree of hearing loss due to background genes, we aimed to search for confirmation of previously suggested genotype-phenotype correlation in GJB2 deafness in the Turkish population...
  21. doi request reprint Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations
    Asli Sirmaci
    Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 73:699-705. 2009
    ..These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss...
  22. ncbi request reprint Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy
    T Tunc
    Gulhane Military School of Medicine, Department of Pediatrics, Division of Neonatology, Ankara, Turkey
    Genet Couns 20:275-9. 2009
    ..Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia...
  23. ncbi request reprint Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome
    N Cakar
    Department of Pediatric Nephrology, Ankara Social Security Children s Hospital, Ankara, Turkey
    Clin Exp Rheumatol 19:S63-7. 2001
    ..Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis...
  24. ncbi request reprint Assessment of ventricular repolarization in a large group of children with early onset deafness
    Ercan Tutar
    Ankara University School of Medicine, Division of Pediatric Cardiology, Ankara, Turkey
    Pacing Clin Electrophysiol 27:1217-20. 2004
    ..Based on these results, routine ECG screening of deaf children for repolarization abnormalities may be unnecessary unless they have a history of syncope or positive family history of syncope and/or early sudden death...
  25. doi request reprint Recurrent and private MYO15A mutations are associated with deafness in the Turkish population
    F Basak Cengiz
    Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Genet Test Mol Biomarkers 14:543-50. 2010
    ..We estimate the prevalence of homozygous MYO15A mutations in autosomal recessive nonsyndromic deafness in Turkey as 0.062 (95% confidence interval is 0.020-0.105)...
  26. ncbi request reprint Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome
    Erdal Ince
    Division of Pediatric Infectious Disease, Department of Pediatrics, Ankara Univeristy School of Medicine, Dikimevi, Ankara, Turkey
    Pediatr Int 47:550-3. 2005
    ..Thermoregulation problems, resulting in hypo- or hyperthermia, have been infrequently reported in children with Prader Willi syndrome (PWS), yet their clinical details remained unknown...
  27. ncbi request reprint [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]
    Yaprak E Cirçir
    Department of Pediatric Molecular Pathology and Genetics, Medicine Faculty of Ankara University, Ankara, Turkey
    Kulak Burun Bogaz Ihtis Derg 17:75-80. 2007
    ..We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use...
  28. ncbi request reprint Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism
    Aydan Ikinciogullari
    Division of Paediatric Immunology Allergy, Ankara University School of Medicine, Ankara, Turkey
    Eur J Pediatr 164:177-9. 2005
  29. ncbi request reprint 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population
    Mustafa Tekin
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey
    Hum Biol 77:393-7. 2005
    ..We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation. The 657del5 allele in the four Turkish families had a single origin...
  30. doi request reprint Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
    H Erken
    Departments of Cardiology Pathology, Ankara University School of Medicine, Sihhiye, Ankara 06100, Turkey
    Br J Dermatol 165:917-21. 2011
    ..This study expands the clinical spectrum of disorders associated with germline mutations affecting desmosomal proteins by describing a novel phenotype...
  31. ncbi request reprint Ophthalmo-acromelic syndrome: report and review
    M Tekin
    Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
    Am J Med Genet 90:150-4. 2000
    ..The patient also was found to have interruption of the inferior vena cava with azygos continuation as an additional finding. The previous reports are reviewed to elucidate the spectrum of the syndrome...
  32. ncbi request reprint Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia
    D Tekin
    Department of Physiology, Ankara University School of Medicine, Turkey
    Pediatr Int 43:74-7. 2001
    ..Alterations in platelet function and antioxidant status in children with iron-deficiency anemia (IDA) have been reported previously. The present study was performed to better understand possible interactions between these two systems...
  33. ncbi request reprint The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
    M I Akçaboy
    Division of Pediatric Genetics, Ankara University School of Medicine, Birlik Mah 65 Sok No 20 7, Cankaya, Ankara 06610, Turkey
    Pediatr Cardiol 29:126-9. 2008
    ..These results show that no genetic support exists for the pathogenecity of this alteration, although a previous in vitro study and theoretical predictions suggest a structural/functional difference in the altered protein region...
  34. ncbi request reprint A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy
    Tümay Doğanc
    Pediatric Gastroenterology Unit, Ankara University School of Medicine, Ankara, Turkey
    Clin Dysmorphol 16:173-6. 2007
    ..1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder...
  35. ncbi request reprint SLC26A4 mutations are associated with a specific inner ear malformation
    Suat Fitoz
    Department of Radiodiagnostics, Ankara University School of Medicine, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 71:479-86. 2007
    ..Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations...
  36. ncbi request reprint Heart rate variability in children with congenital sensorineural deafness
    Tayfun Ucar
    Division of Pediatric Cardiology, Ankara University, Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 52:173-8. 2010
    ..We conclude that cardiac autonomic dysfunction does not seem to be present in patients with congenital sensorineural deafness...
  37. pmc A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss
    K O Yariz
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
    Clin Genet 81:289-93. 2012
    ..Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness...
  38. ncbi request reprint Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients
    Z Birsin Ozcakar
    Department of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey
    Pediatr Nephrol 21:1093-6. 2006
    ..Our results also suggest the presence of a wide range of phenotypic variability between individuals with the same genotype...
  39. ncbi request reprint Arthritis in children with familial Mediterranean fever
    Erdal Ince
    Department of Pediatrics, Ankara University School of Medicine, Turkey
    Rheumatol Int 21:213-7. 2002
    ..The clinical presentations of arthritis in FMF may be an important source of diagnostic confusion in FMF. Mutation analysis is of value in situations of diagnostic uncertainty...
  40. doi request reprint Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome
    Ayça T Ergür
    Division of Pediatric Endocrinology, Faculty of Medicine, Ankara University, Ankara, Turkey
    Pediatr Int 50:172-4. 2008
    ..The aim of the present study was to compare phenotypic characteristics and neurocognitive pattern of 12 monosomic TS girls, according to X-linked imprinting...
  41. ncbi request reprint Serum amyloid A1 -13 T/C alleles in Turkish familial Mediterranean fever patients with and without amyloidosis
    Nejat Akar
    Pediatric Molecular Genetics Department, Ankara University, School of Medicine, Ankara, Turkey
    J Nephrol 19:318-21. 2006
    ..Our data revealed that the genotype SAA1 -13T has at least an effect on the development of amyloidosis. As more data on this polymorphism accumulate, we will understand its effect on the pathogenesis of amyloidosis in FMF...
  42. ncbi request reprint A 15-year-old girl with swelling of the face, legs, breast, and eyes
    Zeynep Celebi Sözener
    Department of Chest Diseases, Ankara University School of Medicine, Turkey
    Pediatr Ann 36:150-3. 2007
  43. ncbi request reprint Contrast-enhanced MR angiography of thoracic vascular malformations in children
    Suat Fitoz
    Ankara University, School of Medicine, Department of Radiology, Ibn i Sina Hospital, 06100 Sihhiye, Ankara, Turkey
    Int J Cardiol 123:3-11. 2007
    ....
  44. pmc Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genomics 2:203-11. 2006
    ..We also conclude that the same genes are responsible for hearing loss in this population as elsewhere, so that gene discovery in these families informs the genetics of hearing loss worldwide...
  45. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...
  46. ncbi request reprint Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene
    Serap Teber
    Department of Pediatric Neurology, Ankara University School of Medicine of Pediatrics, 06510 Ankara, Turkey
    Eur J Paediatr Neurol 12:133-6. 2008
    ..However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family...
  47. pmc A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart
    Kathleen S Arnos
    Department of Biology, Gallaudet University, Washington, DC 20002, USA
    Am J Hum Genet 83:200-7. 2008
    ....
  48. ncbi request reprint Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
    Jeffrey E Ming
    Division of Human Genetics, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Genet 110:297-301. 2002
    ..These findings further demonstrate the genetic heterogeneity associated with HPE, as well as showing that mutations in different components of a single signaling pathway can result in the same clinical condition...
  49. ncbi request reprint A note on the mutation analysis in familial Mediterranean fever
    Nejat Akar
    Pediatr Nephrol 18:196-7. 2003
  50. ncbi request reprint Chudley-McCullough syndrome: expanded phenotype and review of the literature
    Katherine Oelrich Welch
    Department of Biology, Gallaudet University, Washington DC, USA
    Am J Med Genet A 119:71-6. 2003
    ..We, therefore, recommend an audiological assessment for all children with hydrocephalus, especially those with obstruction of the foramen of Monro...
  51. pmc Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 83:511-9. 2008
    ..Our findings indicate that both normosmic IHH and KS are mild allelic variants of CHARGE syndrome and are caused by CHD7 mutations...