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Article

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.

Experimental eye research - 1 Aug 2009

Zenteno Juan Carlos, Correa-Gomez Vicente, Santacruz-Valdez Concepción, Suarez-Sanchez Raul, Villanueva-Mendoza Cristina

Abstract excerpt

Corneal dystrophies (CDS) are inherited disorders characterized by an altered corneal transparency and refractive index which may be caused by a progressive accumulation of deposits within the different corneal layers. Most CDs are inherited in an autosomal dominant fashion and mutations in the TGFBI gene at chromosome 5q31 cause the majority of CDs affecting the stromal layer. A genotype-phenotype correlation...

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Source

Identifiers

PMID: 19303004
DOI: 10.1016/j.exer.2009.03.004

Genes

TGFBI

Variants

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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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