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Article

[A novel mutation of the PAX6 gene in a Chinese family with aniridia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2010

Kang Yang, Yuan Hui-ping, Li Xue, Li Qing-jun, Wu Qiong, Hu Qi

Abstract excerpt

OBJECTIVE: The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the iris of eyes. The function of the PAX6 gene in these two conditions is still poorly defined. The purpose of this study is to identify the mutation of the PAX6 gene in a Chinese family with aniridia. METHODS:...

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Source

Identifiers

PMID: 20677140
DOI: 10.3760/cma.j.issn.1003-9406.2010.04.004

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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