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

Pang, Q; Chi, Y; Zhao, Z; Xing, X; Li, M; Wang, O; Jiang, Y; Liao, R; Sun, Y; Dong, J; Xia, W

Pang, Q; Chi, Y; Zhao, Z; Xing, X; Li, M; Wang, O; Jiang, Y; Liao, R; Sun, Y; Dong, J; Xia, W.

Afiliação

Pang Q; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Chi Y; Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan, 030001, China.
Zhao Z; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Li M; Department of Geriatrics, Beijing Friendship Hospital affiliated to Capital Medical University, Beijing, 100050, China.
Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Liao R; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Sun Y; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Dong J; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.

Osteoporos Int ; 27(3): 1047-1055, 2016 Mar.

Article em En | MEDLINE | ID: mdl-26395888

Assuntos

Canais de Cloreto/genética; Mutação de Sentido Incorreto; Osteopetrose/genética; Adulto; Povo Asiático/genética; Densidade Óssea/genética; Densidade Óssea/fisiologia; Criança; Simulação por Computador; Feminino; Humanos; Vértebras Lombares/fisiopatologia; Masculino; Osteopetrose/congênito; Osteopetrose/diagnóstico por imagem; Osteopetrose/fisiopatologia; Linhagem; Adulto Jovem

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Canais de Cloreto / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Osteoporos Int Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido

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