Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All patients underwent thorough ophthalmological examinat...

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Detalles Bibliográficos
Autores principales: Bodenbender, Jan-Philipp, Marino, Valerio, Bethge, Leon, Stingl, Katarina, Haack, Tobias B., Biskup, Saskia, Kohl, Susanne, Kühlewein, Laura, Dell’Orco, Daniele, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916573/
https://www.ncbi.nlm.nih.gov/pubmed/36769033
http://dx.doi.org/10.3390/ijms24032709

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916573/
https://www.ncbi.nlm.nih.gov/pubmed/36769033
http://dx.doi.org/10.3390/ijms24032709

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