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NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

Current eye research - 1 Sept 2017

Shoshany Nadav, Avni Isaac, Morad Yair, Weiner Chen, Einan-Lifshitz Adi, Pras Eran

Abstract excerpt

PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase...

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PMID: 28557584
DOI: 10.1080/02713683.2017.1304560

Genes

NHS

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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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