Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.

Abstract excerpt

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR...

Topics

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

• Share to Branchio-Oto-Renal Syndrome
• Share to Diagnosis, Differential
• Share to Intracellular Signaling Peptides and Proteins