Article
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
PloS one - 1 Jan 2014
Matsunaga Kimie, Tanabe Katsuya, Inoue Hiroshi, Okuya Shigeru, Ohta Yasuharu, Akiyama Masaru, Taguchi Akihiko, Kora Yukari, Okayama Naoko, Yamada Yuichiro, Wada Yasuhiko, Amemiya Shin, Sugihara Shigetaka, Nakao Yuzo, Oka Yoshitomo, Tanizawa Yukio
Abstract excerpt
BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease...
Topics
Join the communities discussing this publication.