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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書誌詳細
出版年:Int J Mol Sci
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
Article
オンライン･アクセス: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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