Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CIS...

Source: Orphanet Journal of Rare Diseases - August 7, 2019 Category: Internal Medicine Authors: Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen and Guohong Tian Tags: Research Source Type: research