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Article

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

European journal of human genetics : EJHG - 1 Aug 2011

Chograni Manèl, Rejeb Imen, Jemaa Lamia Ben, Châabouni Myriam, Bouhamed Habiba Chaabouni

Abstract excerpt

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS...

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Identifiers

PMID: 21559051
DOI: 10.1038/ejhg.2011.52
PMCID: PMC3172933

Genes

NHS

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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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