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Article

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

Molecular vision - 11 Jul 2008

Li Dandan, Qi Yanhua, Wang Li, Lin Hui, Zhou Nan, Zhao Liming

Abstract excerpt

PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed. Exon 14 was also...

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Source

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Identifiers

PMID: 18636123
PMCID: PMC2467519

Genes

TGFBI

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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