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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

Journals publishing in this area

1The Laryngoscope cover
The Laryngoscope
ISSN 0023-852X962 articles in this topic
237h-index
2Archives of Pediatrics and Adolescent Medicine cover
Archives of Pediatrics and Adolescent Medicine
ISSN 1072-4710400 articles in this topic
252h-index