eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | wolfram syndrome |
| Comorbidity | C0029132|optic neuropathy |
| Sentences | 1 |
| PubMedID- 20069065 | In this article we report a novel missense mutation (p.lys836asn) in exon 8 of wfs1 that is associated with autosomal dominant optic neuropathy and deafness. |
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