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Article

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Current eye research - 1 Nov 2018

Wang Xun, Liu Xing, Huang Liqin, Fang Shaohua, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangming

Abstract excerpt

Purpose/aim of the study: To conduct a survey spectrum of the PITX2, FOXC1, and PRDM5 genes to reveal genotype-phenotype correlations in a cohort of Southeastern Chinese patients with Axenfeld-Rieger syndrome (ARS). MATERIALS AND METHODS: A total of 20 probands with ARS were recruited in Southeast China. All patients underwent full ocular and systemic examinations. Sanger sequencing was used to analyze all coding...

Read the complete abstract on PubMed

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Identifiers

PMID: 29939776
DOI: 10.1080/02713683.2018.1493129

Genes

PITX2
FOXC1
PRDM5

Provenance

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