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Article

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

American journal of ophthalmology - 1 May 2007

Fingert John H, Honkanen Robert A, Shankar Suma P, Affatigato Louisa M, Ehlinger Mary A, Moore Michael D, Jampol Lee M, Sheffield Val C, Stone Edwin M, Alward Wallace L M

Abstract excerpt

PURPOSE: To identify the chromosomal location of the gene involved in the pathogenesis of cavitary optic disk anomalies in a large pedigree with autosomal dominant inheritance of disease. DESIGN: Linkage analysis of a pedigree affected with cavitary optic disk anomalies. METHODS: Optic disk photographs were examined for the presence of cavitary optic disk anomalies. Sixteen affected family members and one...

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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: 17368552
DOI: 10.1016/j.ajo.2007.01.042
PMCID: PMC3684050

Genes

NEUROD4
WIF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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