Article
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
American journal of medical genetics. Part A - 1 Aug 2024
Kanwar Kunal, Bashey Saffiya, Bohnsack Brenda L, Drackley Andy, Ing Alexander, Rahmani Safa, Ranaivo Hantamalala Ralay, McMullen Patrick, Skol Andrew, Yap Kailee, Allegretti Valerie, Rossen Jennifer L
Abstract excerpt
CHARGE syndrome is a rare multi-system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype-phenotype associations, are not well-studied. This study evaluated ocular manifestations and genotype-phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review included pediatric patients under 20 years-old with clinical diagnosis...
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