Ontology highlight
ABSTRACT:
SUBMITTER: Bodoor K
PROVIDER: S-EPMC5006133 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Bodoor Khaldon K Batiha Osama O Abu-Awad Ayman A Al-Sarihin Khaldon K Ziad Haya H Jarun Yousef Y Abu-Sheikha Aya A Abu Jalboush Sara S Alibrahim Khoulod S KS
Meta gene 20160716
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study was carried out to investigate the molecular spectrum of WFS1 gene in Jordanian families. Molecular and ...[more]