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Article

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Experimental eye research - 1 Jan 2023

Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang Li

Abstract excerpt

PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2 and FOXC1 and their associated phenotype based on data from our study and previously reported literatures. Whole exome sequencing was performed on eight probands in our study. Multistep bioinformatic and co-segregation analyses were performed to...

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Identifiers

PMID: 36442680
DOI: 10.1016/j.exer.2022.109307

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