Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.

Abstract excerpt

Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore...

Topics

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

• Share to Mutation
• Share to Non-Fibrillar Collagens