Open AccessA Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings
Author(s) -
Dapeng Sun,
Yunhai Dai,
Xiaojing Pan,
Tao Shan,
Dian-Qiang Wang,
Peng Chen
Publication year - 2017
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2017.06.04
Subject(s) - sanger sequencing , exome sequencing , genetics , candidate gene , exon , gene , mutation , genetic linkage , exome , dna sequencing , biology , medicine
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.
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