1. Name of the disease (synonyms)
Wolfram syndrome.
2. OMIM# of the disease
222300 and 604928.
3. Name of the analysed genes or DNA/chromosome segments
WFS1 and CISD2.
4. OMIM# of the gene(s)
WFS1 MIM# 606201; CISD2 MIM# 611507.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the WFS1 and CISD2 gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.
- Mariya Moosajee
- Patrick Yu-Wai-Man
- Richard Bowman
