Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

Abstract excerpt

Robinow syndrome is a clinically and genetically heterogeneous disorder characterized by mesomelic limb shortening, distinctive facial features, and variable oral, cardiac, vertebral, and urogenital malformations. We identified the novel de novo splice acceptor mutation c.1715-2A > C in DVL3 in a 15-year-old female patient with typical features of Robinow syndrome. By studying DVL3 transcripts in this patient, we...

Topics

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

• Share to Craniofacial Abnormalities
• Share to Dishevelled Proteins