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Article

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family.

Investigative ophthalmology & visual science - 18 Dec 2014

Chograni Manèl, Alkuraya Fowzan S, Maazoul Faouzi, Lariani Imen, Chaabouni-Bouhamed Habiba

Abstract excerpt

PURPOSE: The object of this study is to identify the underlying genetic defect in a consanguineous Tunisian family affected with autosomal recessive congenital cataract associated with mental retardation and microcephaly. METHODS: A whole-genome scan was performed with polymorphic microsatellites in the axiom data for the screened members. Homozygous regions were analyzed with integrated Systems Tool for Eye gene...

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Source

Identifiers

PMID: 25525169
DOI: 10.1167/iovs.14-15198

Genes

RGS6

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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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