Publications by authors named "Jef Driesen"

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of . Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term " disorder" to encompass a wider range of associated symptoms.

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