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Genetic testing for X-linked juvenile retinoschisis

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in th...

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Autores principales: Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Formato: Artigo
Lenguaje:Inglês
Publicado: Sciendo 2017-10-01
Colección:The EuroBiotech Journal
Acceso en línea:https://doi.org/10.24190/ISSN2564-615X/2017/S1.35
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