Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-...

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Detalles Bibliográficos
Autores principales: Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956818/
https://www.ncbi.nlm.nih.gov/pubmed/33673512
http://dx.doi.org/10.3390/ijms22052374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956818/
https://www.ncbi.nlm.nih.gov/pubmed/33673512
http://dx.doi.org/10.3390/ijms22052374

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