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X-Linked retinoschisis associated to a novel intragenic microdeletion: case report

BACKGROUND: X-linked retinoschisis is a recessively inherited retinal degeneration. Clinical diagnosis can be challenging due to the highly variable phenotypic presentation. Also, clinical diagnostic tests may be normal at early stages of this condition. Therefore, genetic diagnosis has become a pri...

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Detalles Bibliográficos
Autores principales:	Vazquez-Alfageme, Clara, Reinoso, Roberto, Acedo, Alberto, Coco, Rosa M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721011/ https://www.ncbi.nlm.nih.gov/pubmed/26791414 http://dx.doi.org/10.1186/s12881-016-0270-x

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