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Article

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Molecular vision - 1 Jan 2011

Nowińska Anna K, Wylegala Edward, Janiszewska Dominika A, Dobrowolski Dariusz, Aragona Pasquale, Roszkowska Anna M, Puzzolo Domenico

Abstract excerpt

PURPOSE: To analyze genotype-phenotype correlation in patients originating from Polish population with the transforming growth factor beta induced (TGFBI) corneal dystrophies. METHODS: Sixty affected and 31 unaffected individuals from 15 unrelated Polish families were included in the study. The clinical diagnosis was based on the slit-lamp exam, 1310 nm time domain and 1310 nm swept source spectral domain optical...

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Corneal Dystrophies, Hereditary
Exons
Extracellular Matrix Proteins
Genetic Association Studies
Poland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tomography, Optical Coherence

Transforming Growth Factor beta

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Open in PubMed Open full text

Identifiers

PMID: 21921985
PMCID: PMC3171495

Genes

TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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