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Article

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

European journal of human genetics : EJHG - 1 Sept 2006

Florijn Ralph J, Loves Willem, Maillette de Buy Wenniger-Prick Liesbeth J J M, Mannens Marcel M A M, Tijmes Nel, Brooks Simon P, Hardcastle Alison J, Bergen Arthur A B

Abstract excerpt

Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four...

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PMID: 16736028
DOI: 10.1038/sj.ejhg.5201671

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NHS

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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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