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Article

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PloS one - 1 Jan 2014

de Castro-Miró Marta, Pomares Esther, Lorés-Motta Laura, Tonda Raul, Dopazo Joaquín, Marfany Gemma, Gonzàlez-Duarte Roser

Abstract excerpt

Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders. Concerning Retinal Dystrophies (RD), almost 200 causative genes have been reported to date, and most families carry private mutations. We aimed to approach RD genetic diagnosis using all the available genetic information to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24516651
DOI: 10.1371/journal.pone.0088410
PMCID: PMC3917917

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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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