Article
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026
Radio Francesca Clementina, Tasca Giorgio, Coppens Sandra, Chillemi Giovanni, Whalen Sandra, Marey Isabelle, Leoni Chiara, Onesimo Roberta, Deconinck Nicolas, D'Amico Adele, Remiche Gauthier, Nascimento Andres, Ortez Carlos, Jou Cristina, Lecomte Sophie, Falsini Benedetto, Ciolfi Andrea, Ferilli Marco, Cappelletti Camilla, Niceta Marcello, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Vahidi Mehrjardi Mohammad Yahya, Dadbinpour Ali, Movahedinia Mojtaba, Firoozfar Zahra, Alavi Shahryar, Alibakhshi Reza, Ghazinader Donya, Mojarrad Majid, Rajati Mohsen, Keren Boris, Bertini Enrico Silvio, Zampino Giuseppe, Natera de Benito Daniel, Maroofian Reza, Tartaglia Marco
Abstract excerpt
PURPOSE: Biallelic variants in RDH11, encoding retinol dehydrogenase 11, have been associated with a syndromic disorder, based on 4 individuals from 2 unrelated families. We aimed to profile the clinical variability, natural history and associated molecular spectrum of this condition. METHODS: In the frame of a collaborative effort, clinical and molecular data were collected using a semistructured survey....
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