Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Mutations in POC1B are a rare cause of inherited retinal degeneration. In this study, we present a thorough phenotypic and genotypic characterization of three individuals harboring putatively pathogenic variants in the POC1B gene. All patients displayed a similar, slowly progressive retinopathy (con...

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Udgivet i:Int J Mol Sci
Main Authors: Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8160832/
https://ncbi.nlm.nih.gov/pubmed/34065499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22105396
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