title: Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han.
authors.affiliation: Cardiovascular Division of Internal Medicine Department, Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology, Wuhan 430030, China. Electronic address: newswangyan@tjh.tjmu.edu.cn.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Cardiovascular Division of Internal Medicine Department, Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology, Wuhan 430030, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: Cardiovascular Division of Internal Medicine Department, Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology, Wuhan 430030, China. Electronic address: dwwang@tjh.tjmu.edu.cn.
authors.forename: Dao Wen
authors.initials: DW
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics*
chemical_list: D014443:Tyrosine; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D003545:Cysteine
keywords: Leopard syndrome; Missense; Mutation; Sporadic