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Article

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.

Ophthalmic genetics - 1 Aug 2022

Jozaei Roxanne, Javadi Mohammad-Ali, Safari Iman, Moghaddasi Afrooz, Feizi Sepehr, Kanavi Mozhgan Rezaei, Najafi Sajad, Safdari Bahareh, Salahshourifar Iman, Elahi Elahe, Suri Fatemeh

Abstract excerpt

PURPOSE: Transforming growth factor beta-induced (TGFBI)-associated corneal dystrophies (CDs) are a clinically heterogeneous group of CDs caused by mutations in the TGFBI gene. Nucleotide sequences encoding two arginine residues at positions 124 and 555 in TGFBI protein are mutation hotspots. We screened regions of TGFBI that include the hotspots in a cohort of Iranian patients with TGFBI-associated CDs. We also...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35473478
DOI: 10.1080/13816810.2022.2068040

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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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