Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.

Abstract excerpt

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from...

Topics

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

• Share to Blood Platelet Disorders
• Share to Chromosomes, Human, Pair 4