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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Publicado en:Int J Mol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: MDPI 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7956818/
https://ncbi.nlm.nih.gov/pubmed/33673512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22052374
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