CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction
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DOI: 10.3390/genes15050643
Abstract: CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and… read more here.
Keywords: charge syndrome; chd7 disorder; chd7; chd7 variants ... See more keywords