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CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene
Journal of Medical Genetics · 2005 · Vol. 43(4) · pp. 306–314
M.C.J. Jongmans(Radboud University Medical Center)R.J.C. Admiraal(Radboud University Nijmegen)Kim P. van der Donk(Radboud University Medical Center)Lisenka E.L.M. Vissers(Radboud University Medical Center)Annette F. Baas(Radboud University Nijmegen)Livia Kapusta(Radboud University Medical Center)Johanna M. van Hagen(Amsterdam UMC Location VUmc)D Donnai(St. Mary's Hospital)Thomy de Ravel(Centre For Human Genetics)Joris A. Veltman(Radboud University Medical Center)Ad Geurts van Kessel(Radboud University Nijmegen)Bert B.A. de Vries(Institute of Criminology)Han G. Brunner(Radboud University Nijmegen)Lies H. Hoefsloot(Radboud University Medical Center)Conny M.A. van Ravenswaaij✉(Radboud University Nijmegen)
Abstract
CHD7 mutations account for the majority of the cases with CHARGE syndrome, with a broad clinical variability and without an obvious genotype-phenotype correlation. In one case evidence for germline mosaicism was provided.
Congenital Ear and Nasal AnomaliesTracheal and airway disordersHead and Neck AnomaliesCHARGE syndromeChoanal atresiaGeneticsBiologyHypoplasiaGermline mosaicismColobomaGene mutationGermline mutationPhenotype
MeSH terms
Abnormalities, MultipleAdolescentAdultCentral Nervous System DiseasesChildChild, PreschoolChoanal AtresiaColobomaDNA Mutational AnalysisDNA HelicasesDNA-Binding ProteinsFemaleGenetic TestingGestational AgeHeart Defects, Congenital
Citations
459
FWCI
9.82
field-weighted impact
References
26
Percentile
98%
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Citations per year
References
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
The Journal of Pediatrics · 1981 · 832 citations
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