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机译:Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
University of London,UCL;
Great Ormond St Hosp Sick Children;
Res Biomed Res Ctr,Moorfields Eye Hosp NHS Fdn TrustDept Ophthalmol,Leeds Teaching Hosp NHS Trust;
retina; dystrophy; genetics; imaging; HUMAN RETINOL-DEHYDROGENASE-12 RDH12; RETINAL DYSTROPHY; CLINICAL-FEATURES; MUTATION; ASSOCIATION; PROTEIN; RPE65; DEGENERATION; GENETICS; DECAY;