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Article

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

Scientific reports - 17 Aug 2017

Motta Fabiana Louise, Salles Mariana Vallim, Costa Karita Antunes, Filippelli-Silva Rafael, Martin Renan Paulo, Sallum Juliana Maria Ferraz

Abstract excerpt

Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic...

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Identifiers

PMID: 28819299
DOI: 10.1038/s41598-017-09035-1
PMCID: PMC5561187

Genes

CRB1

Variants

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