Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento A, Ortez C, Jou C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera de Benito D, Maroofian R, Tartaglia M.
Radio FC, et al. Among authors: dadbinpour a.
Genet Med. 2026 May;28(5):102558. doi: 10.1016/j.gim.2026.102558. Epub 2026 Mar 25.
Genet Med. 2026.
PMID: 41904678