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Article

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Gene - 10 Oct 2013

Chacon-Camacho Oscar F, Jitskii Serguei, Buentello-Volante Beatriz, Quevedo-Martinez Jonathan, Zenteno Juan C

Abstract excerpt

OBJECTIVE: Retinitis pigmentosa (RP) is the most prevalent type of inherited retinal degeneration and one of the commonest causes of genetically determined visual dysfunction worldwide. To date, approximately 35 genes have been associated with nonsyndromic autosomal recessive RP (arRP), however the small contribution of each gene to the total prevalence of arRP and the lack of a clear genotype-phenotype...

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Source

Identifiers

PMID: 23900199
DOI: 10.1016/j.gene.2013.07.021

Genes

RDH12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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