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Article

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Scientific reports - 9 Sept 2015

Nikopoulos Konstantinos, Avila-Fernandez Almudena, Corton Marta, Lopez-Molina Maria Isabel, Perez-Carro Raquel, Bontadelli Lara, Di Gioia Silvio Alessandro, Zurita Olga, Garcia-Sandoval Blanca, Rivolta Carlo, Ayuso Carmen

Abstract excerpt

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of...

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Source

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Identifiers

PMID: 26350383
DOI: 10.1038/srep13902
PMCID: PMC4642573

Genes

CDHR1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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