Article
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Ophthalmic genetics - 1 Dec 2021
Igelman Austin D, Ku Cristy, da Palma Mariana Matioli, Georgiou Michalis, Schiff Elena R, Lam Byron L, Sankila Eeva-Marja, Ahn Jeeyun, Pyers Lindsey, Vincent Ajoy, Ferraz Sallum Juliana Maria, Zein Wadih M, Oh Jin Kyun, Maldonado Ramiro S, Ryu Joseph, Tsang Stephen H, Gorin Michael B, Webster Andrew R, Michaelides Michel, Yang Paul, Pennesi Mark E
Abstract excerpt
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.Chart review evaluating demographic, clinical, imaging, and genetic findings of 19 patients from 18 families with a clinical diagnosis of retinal disease and confirmed disease-causing variants in CEP78, CEP250, ARSG, or...
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