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

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Title: Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
Authors: Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: francesca.clementina.radio@gmail.com., Tasca G; John Walton Muscular Dystrophy Research Center, NIHR Newcastle Biomedical Research Center, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle upon Tyne, United Kingdom., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Chillemi G; Department of Experimental Medicine, University of Rome 'Tor Vergata,' Rome, Italy; National Institute for Infectious Diseases Lazzaro Spallanzani IRCCS, Rome, Italy., Whalen S; Anomalies du développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris, France., Marey I; Anomalies du développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris, France., Leoni C; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Onesimo R; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Deconinck N; Service de Neurologie, Center de Référence Neuromusculaire, Hôpital Erasme, Université Libre de Bruxelles, Hôpital Universitaire de Bruxelles, Brussels, Belgium., D'Amico A; Unit of Muscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Remiche G; Service de Neurologie, Center de Référence Neuromusculaire, Hôpital Erasme, Université Libre de Bruxelles, Hôpital Universitaire de Bruxelles, Brussels, Belgium., Nascimento A; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Ortez C; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Lecomte S; Department of Pathology, CHU-Brugmann, Brussels, Belgium., Falsini B; Ophthalmology, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Cappelletti C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Vahidi Mehrjardi MY; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Dadbinpour A; Genetic and Environmental Adventures Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Firoozfar Z; Palindrome, Isfahan, Iran., Alavi S; Palindrome, Isfahan, Iran., Alibakhshi R; Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran., Ghazinader D; Personalised Medicine Center, School of Medicine, Ulster University, Londonderry, United Kingdom., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad, Iran., Rajati M; Sinus and Surgical Endoscopic Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Keren B; Anomalies du développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris, France., Bertini ES; Unit of Muscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Zampino G; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; School of Medicine, Catholic University of the Sacred Heart, Rome, Italy., Natera de Benito D; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Maroofian R; Department of Neuromuscular Diseases, University College London, London, United Kingdom., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102558. Date of Electronic Publication: 2026 Mar 25.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2026.102558