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...
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Autores principales: | Bohdan Kousal, Lucia Hlavata, Hana Vlaskova, Lenka Dvorakova, Michaela Brichova, Zora Dubska, Hana Langrova, Andrea L. Vincent, Lubica Dudakova, Petra Liskova |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
MDPI AG
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e99 |
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