Variants in NR6A1 cause a novel oculo vertebral renal syndrome

Abstract excerpt

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe an autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae...

Topics

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

• Share to Congenital Ear and Nasal Anomalies
• Share to Ocular Disorders and Treatments
• Share to RNA regulation and disease