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-...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker