Article
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
Molecular vision - 1 Jan 2008
Li Dandan, Zhu Qingguo, Lin Hui, Zhou Nan, Qi Yanhua
Abstract excerpt
PURPOSE: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS. METHODS: Two generations of the family with ARS were enrolled in...
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