title: A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
authors.affiliation: a Department of Information Management , Hunan University of Finance and Economics , Changsha , China .
authors.forename: Rui-Feng
authors.initials: RF
authors.lastname: Du
authors.affiliation: b Department of Cell Biology , School of Life Sciences, Central South University , Changsha , China .
authors.forename: Hao
authors.initials: H
authors.lastname: Huang
authors.affiliation: b Department of Cell Biology , School of Life Sciences, Central South University , Changsha , China .
authors.forename: Liang-Liang
authors.initials: LL
authors.lastname: Fan
authors.affiliation: c Department of Cardiology , the Second Xiangya Hospital of Central South University , Changsha , China , and.
authors.forename: Xiang-Ping
authors.initials: XP
authors.lastname: Li
authors.affiliation: b Department of Cell Biology , School of Life Sciences, Central South University , Changsha , China .|d State Key Laboratory of Medical Genetics , Central South University , Changsha , China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: b Department of Cell Biology , School of Life Sciences, Central South University , Changsha , China .|c Department of Cardiology , the Second Xiangya Hospital of Central South University , Changsha , China , and.|d State Key Laboratory of Medical Genetics , Central South University , Changsha , China.
authors.forename: Rong
authors.initials: R
authors.lastname: Xiang
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities*; D004452:Echocardiography; D005091:Exons / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics*; D006068:Gonioscopy; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors