Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
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DOI: 10.1080/13816810.2021.1946704
Abstract: 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… read more here.
Keywords: phenotype; disease causing; clinical phenotype; atypical usher ... See more keywords