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Article

Identifying mutations in Tunisian families with retinal dystrophy.

Scientific reports - 22 Nov 2016

Habibi Imen, Chebil Ahmed, Falfoul Yosra, Allaman-Pillet Nathalie, Kort Fedra, Schorderet Daniel F, El Matri Leila

Abstract excerpt

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27874104
DOI: 10.1038/srep37455
PMCID: PMC5118704

Genes

CERKL
RPE65
ABCA4
CNGB1
CNGB3
EYS
PROM1

Variants

Provenance

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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