Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals
Aims/hypothesis Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and opticatrophy and is caused by bi-allelic mutations in the WFS1 gene. In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare...
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| Main Authors: | , , |
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| 格式: | Article |
| 語言: | English |
| 出版: |
2020
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| 在線閱讀: | https://hdl.handle.net/10356/137250 |
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| 機構: | Nanyang Technological University |
| 語言: | English |