Article
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).
Journal of clinical research in pediatric endocrinology - 1 Mar 2017
Çelmeli Gamze, Türkkahraman Doğa, Çürek Yusuf, Houghton Jayne, Akçurin Sema, Bircan İffet
Abstract excerpt
Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and the age of onset...
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