Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequ...

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Detalles Bibliográficos
Autores principales: Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623540/
https://www.ncbi.nlm.nih.gov/pubmed/34828422
http://dx.doi.org/10.3390/genes12111816

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623540/
https://www.ncbi.nlm.nih.gov/pubmed/34828422
http://dx.doi.org/10.3390/genes12111816

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