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Article

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

BMC medical genetics - 20 Jan 2016

Vazquez-Alfageme Clara, Reinoso Roberto, Acedo Alberto, Coco Rosa M

Abstract excerpt

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 priceless tool in the management of this disease. CASE PRESENTATION: We present a case of a 17-year-old caucasian male...

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Identifiers

PMID: 26791414
DOI: 10.1186/s12881-016-0270-x
PMCID: PMC4721011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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