https://openalex.org/T13738
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.
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rdfs:label "CHARGE Syndrome and Related Genetic Disorders"@en ;
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openalex:cited_by_count 93383 ;
openalex:works_count 9027 .