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Article

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

The British journal of ophthalmology - 1 Jul 2003

Francis P J, Johnson S, Edmunds B, Kelsell R E, Sheridan E, Garrett C, Holder G E, Hunt D M, Moore A T

Abstract excerpt

AIM: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD). METHODS: Details of the family were obtained from the Moorfields Eye Hospital genetic clinic database and comprised eight affected, four unaffected members, and two spouses. Pedigree data were collated and leucocyte DNA extracted from venous...

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Share to Chromosomes, Human, Pair 14
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12812894
DOI: 10.1136/bjo.87.7.893
PMCID: PMC1771750

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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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