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Article

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Molecular vision - 1 Jan 2013

Méndez-Vidal Cristina, González-Del Pozo María, Vela-Boza Alicia, Santoyo-López Javier, López-Domingo Francisco J, Vázquez-Marouschek Carmen, Dopazo Joaquin, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by extreme genetic and clinical heterogeneity. Thus, the diagnosis is not always easily performed due to phenotypic and genetic overlap. Current clinical practices have focused on the systematic evaluation of a set of known genes for each phenotype, but this approach may fail in patients with inaccurate diagnosis or infrequent...

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PMID: 24227914
PMCID: PMC3820429

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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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