Publication
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
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
Genetics in Medicine, May 2026, Elsevier
DOI: 10.1016/j.gim.2026.102558