Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
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 di...
| Main Authors: | , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006133/ |