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Article

A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.

Retina (Philadelphia, Pa.) - 1 Feb 2013

Schoenberger Scott D, Agarwal Anita

Abstract excerpt

PURPOSE: To report a novel mutation occurring in the N-terminal domain of the tissue inhibitor of metalloproteinase 3 (TIMP3) gene in Sorsby fundus dystrophy. METHODS: Retrospective review of medical records of two patients who had clinical features consistent with Sorsby fundus dystrophy. Genetic testing confirmed a mutation in the TIMP3 gene in both patients. RESULTS: Both patients had findings of drusenlike...

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Source

Identifiers

PMID: 23023527
DOI: 10.1097/IAE.0b013e318263d3b4

Genes

TIMP3

Provenance

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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