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Article

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

American journal of medical genetics. Part A - 1 Dec 2014

Gal Moran, Levanon Erez Y, Hujeirat Yasir, Khayat Morad, Pe'er Jacob, Shalev Stavit

Abstract excerpt

Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with...

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Source

Identifiers

PMID: 25250762
DOI: 10.1002/ajmg.a.36739

Genes

TSPAN12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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