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Article

Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.

Gene - 30 Sept 2017

Miao Qi, Ping Xiyuan, Tang Xiajing, Zhang Li, Zhang Xin, Cheng Yalan, Shentu Xingchao

Abstract excerpt

Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic...

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Identifiers

PMID: 28760551
DOI: 10.1016/j.gene.2017.07.073

Genes

PAX6

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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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