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

The aim of this study was to identify <i>RS1</i> 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 &l...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Bohdan Kousal, Lucia Hlavata, Hana Vlaskova, Lenka Dvorakova, Michaela Brichova, Zora Dubska, Hana Langrova, Andrea L. Vincent, Lubica Dudakova, Petra Liskova
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
Acceso en línea:https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e99
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares