Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly

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journal：Genetics in Medicine

Authors：Francesca Clementina Radio; Giorgio Tasca; Sandra Coppens; Giovanni Chillemi; Sandra Whalen; Isabelle Marey; Chiara Leoni; Roberta Onesimo; Nicolas Deconinck; Adele D’Amico; Gauthier Remiche; Andres Nascimento; Carlos Ortez; Cristina Jou; Sophie Lecomte; Benedetto Falsini; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Marcello Niceta; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Mohammad Yahya Vahidi Mehrjardi; Ali Dadbinpour; Mojtaba Movahedinia; Zahra Firoozfar; Shahryar Alavi; Reza Alibakhshi; Donya Ghazinader; Majid Mojarrad; Mohsen Rajati; Boris Keren; Enrico Silvio Bertini; Giuseppe Zampino; Daniel Natera de Benito; Reza Maroofian; Marco Tartaglia

Published date：2026-5-

DOI：10.1016/j.gim.2026.102558

PDF link：https://www.sciencedirect.com/sc ... 098360026008762/pdf

Article link：https://doi.org/10.1016/j.gim.2026.102558

Article Source：Elsevier BV。

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[Elsevier] Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly