Health Sciences → Medicine → Genetics
Congenital Ear and Nasal Anomalies
This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.
13.1K works worldwide98.7K citations
CHD7 GeneGenetic MutationsNeural Crest FormationPhenotypic SpectrumDiagnostic CriteriaCraniofacial DevelopmentHypogonadotropic HypogonadismChoanal AtresiaCochlear ImplantationNeurological Abnormalities
