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Article

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Ophthalmic genetics - 1 Jun 2012

Khan Arif O, Aldahmesh Mohammed A, Mohamed Jawahir Y, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To correlate clinical examination with underlying genotype in asymptomatic females who are potential carriers of X-linked developmental cataract (Nance-Horan syndrome). METHODS: An ophthalmologist blind to the pedigree performed comprehensive ophthalmic examination for 16 available family members (two affected and six asymptomatic females, five affected and three asymptomatic males). Facial features were...

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Identifiers

PMID: 22229851
DOI: 10.3109/13816810.2011.634881

Genes

NHS

Variants

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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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