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Article

CDHR1 mutations in retinal dystrophies.

Scientific reports - 1 Aug 2017

Stingl Katarina, Mayer Anja K, Llavona Pablo, Mulahasanovic Lejla, Rudolph Günther, Jacobson Samuel G, Zrenner Eberhart, Kohl Susanne, Wissinger Bernd, Weisschuh Nicole

Abstract excerpt

We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a customized next generation sequencing panel targeting 105 genes implicated...

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Source

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Identifiers

PMID: 28765526
DOI: 10.1038/s41598-017-07117-8
PMCID: PMC5539332

Genes

CDHR1

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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