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Identification of a novel frameshift mutation inPITX2gene in a Chinese family with Axenfeld-Rieger syndrome

✍ Scribed by Yin, Hou-fa; Fang, Xiao-yun; Jin, Chong-fei; Yin, Jin-fu; Li, Jin-yu; Zhao, Su-juan; Miao, Qi; Song, Feng-wei


Book ID
121578283
Publisher
SP Zhejiang University Press
Year
2014
Tongue
English
Weight
951 KB
Volume
15
Category
Article
ISSN
1673-1581

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A novel homeobox mutation in the PITX2 g
✍ Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 2 views

## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio