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A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
Ma, Xiaosen; Pang, Qianqian; Zhang, Qi; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Xia, Weibo.
Afiliação
  • Ma X; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Pang Q; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Zhang Q; Laboratory Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
  • Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Li M; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
  • Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China. xiaweibo8301@163.com.
Calcif Tissue Int ; 111(6): 634-640, 2022 12.
Article em En | MEDLINE | ID: mdl-35831717
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteomalacia / Hipofosfatemia / Doenças Genéticas Ligadas ao Cromossomo X / Raquitismo Hipofosfatêmico Familiar Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Calcif Tissue Int Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteomalacia / Hipofosfatemia / Doenças Genéticas Ligadas ao Cromossomo X / Raquitismo Hipofosfatêmico Familiar Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Calcif Tissue Int Ano de publicação: 2022 Tipo de documento: Article