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Article

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Molecular vision - 27 Mar 2007

Huang Kristen M, Wu Junhua, Brooks Simon P, Hardcastle Alison J, Lewis Richard Alan, Stambolian Dwight

Abstract excerpt

PURPOSE: Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and dental abnormalities. The syndrome is caused by mutations in the NHS gene, whose function is not known. The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phenotype in five...

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Source

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Identifiers

PMID: 17417607
PMCID: PMC2647563

Genes

NHS

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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Identification of three novel NHS mutations in families with Nance-Horan syndrome.PMID 17417607Read ↗

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Identification of the gene for Nance-Horan syndrome (NHS).Semantic proximity Read ↗

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new familiesSemantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.Semantic proximity Read ↗

[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].Semantic proximity Read ↗

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.Semantic proximity Read ↗

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