Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa

Clinical Phenotype of <i>PDE6B</i>-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 <i>PDE6B</i> gene. Patients underwent clinical examination and genetic testing at a single tertiary referral cent...

Full description

Bibliographic Details
Main Authors: Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
retinitis pigmentosa
phosphodiesterase 6
Online Access:https://www.mdpi.com/1422-0067/22/5/2374

Internet

https://www.mdpi.com/1422-0067/22/5/2374

Similar Items