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Article

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.

Ophthalmology - 1 Apr 2008

Khan Arif O, Aldahmesh Mohammed A, Meyer Brian

Abstract excerpt

PURPOSE: To correlate ophthalmic findings with carrier status for a severe Norrie disease (ND) gene mutation (C95F). DESIGN: Prospective interventional case series. PARTICIPANTS: Six potential carriers and 1 obligate carrier from a family harboring the mutation. METHODS: An ophthalmologist blind to the pedigree performed a full ophthalmic examination for the 7 asymptomatic family members. A peripheral blood...

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Identifiers

PMID: 18387409
DOI: 10.1016/j.ophtha.2007.04.064

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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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