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...

Descripción completa

Detalles Bibliográficos
Autores principales: Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8160832/
https://www.ncbi.nlm.nih.gov/pubmed/34065499
http://dx.doi.org/10.3390/ijms22105396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8160832/
https://www.ncbi.nlm.nih.gov/pubmed/34065499
http://dx.doi.org/10.3390/ijms22105396

Ejemplares similares