A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings

A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings

AIM: To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS) and characterize the molecular defect in PITX2 in the family. METHODS: Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencin...

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Bibliographic Details
Main Authors: Da-Peng Sun, Yun-Hai Dai, Xiao-Jing Pan, Tao Shan, Dian-Qiang Wang, Peng Chen
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2017-06-01
Series:International Journal of Ophthalmology
Subjects:
853
Axenfeld-Rieger syndrome
exome sequencing
linkage analysis
PITX2
intronic mutation
Online Access:http://www.ijo.cn/en_publish/2017/6/20170604.pdf

Internet

http://www.ijo.cn/en_publish/2017/6/20170604.pdf

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