Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Y
PROVIDER: S-EPMC6686481 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Zhang Youjia Y Feng Lili L Kong Xiangmei X Wu Jihong J Chen Yuhong Y Chen Yuhong Y Tian Guohong G
Orphanet journal of rare diseases 20190807 1
<h4>Background</h4>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 CISD2 are two main causing genes of WFS. The aim of this study was to illustrate the ophthalmologic manifestations and determine the genotype of Chinese WFS patients.<h4>Results</h4>Completed ophthalmic examinations and family investigations were performed on 4 clinically ...[more]