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Article

A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.

Molecular vision - 1 Jan 2014

Manayath George J, Namburi Prasanthi, Periasamy Sundaresan, Kale Jeevan A, Narendran Venkatapathy, Ganesh Anuradha

Abstract excerpt

PURPOSE: Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also called PNR) gene. The present study proposed to understand the clinical and genetic characteristics of the family of a patient with an ocular phenotype consistent with Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina (VPTRs)....

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Identifiers

PMID: 24891813
PMCID: PMC4039415

Genes

ERG

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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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