Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

Abstract excerpt

BACKGROUND: Intellectual developmental disorder with dysmorphic facial features, seizures, and distal limb anomalies (IDDFSDA, MIM: #617452) is a rare autosomal recessive genetic disorder. There have been < 30 reported cases globally without fundus and retinal lesions. METHODS: Pathogenic gene variants were identified using whole exome trio sequencing (trioWES) and confirmed using Sanger sequencing. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to East Asian People