Fechtner-Epstein syndrome
It is caused by a mutation in the myosin heavy chain gene MYH9. Hereditary nephritis, deafness, cataracts, and May–Hegglin anomaly appear in this syndrome. Inheritance is autosomal dominant. It was once classified as Alport syndrome.
Links
References
- KASHTAN, Clifford E. Collagen IV-Related Nephropathies [online]. ©28, August, 2001. The last revision 15, July,2010, [cit. 17-03-2023]. <https://www.ncbi.nlm.nih.gov/books/NBK1207/>.
