title: A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
authors.affiliation: Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
authors.forename: Jie-mei
authors.initials: JM
authors.lastname: Gu
authors.forename: Yun-qiu
authors.initials: YQ
authors.lastname: Hu
authors.forename: Hao
authors.initials: H
authors.lastname: Zhang
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Hu
authors.forename: Hua
authors.initials: H
authors.lastname: Yue
authors.forename: Yu-juan
authors.initials: YJ
authors.lastname: Liu
authors.forename: Zhen-lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D002648:Child; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D051883:Receptor, Notch2 / Q000235:genetics*
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2
keywords: Acro-osteolysis; Hajdu–Cheney syndrome; NOTCH2 mutation