首页> Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA> Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.

导出 LinkOut

翻译打印收藏纠错

第一作者： Q,Pang

第一单位： Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.;Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan, 030001, China.

作者： Q,Pang ^[1] ; Y,Chi ^[2] ; Z,Zhao ^[3] ; X,Xing ^[2] ; M,Li ^[2] ; O,Wang ^[2] ; Y,Jiang ^[2] ; R,Liao ^[2] ; Y,Sun ^[2] ; J,Dong ^[4] ; W,Xia ^[5]

作者单位： Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.;Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan, 030001, China. ^[1] Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China. ^[2] Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.;Department of Geriatrics, Beijing Friendship Hospital affiliated to Capital Medical University, Beijing, 100050, China. ^[3] Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan, 030001, China. ^[4] Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China. xiaweibo@medmail.com.cn. ^[5]

关键词 Autosomal dominant osteopetrosis type II CLCN7 Clinical manifestation Intermediate autosomal recessive osteopetrosis Mutation Phenotype