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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations
Dec 12, 2020
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...
Mar 19, 2018
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