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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-35831717
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteomalacia / Hipofosfatemia / Enfermedades Genéticas Ligadas al Cromosoma X / Raquitismo Hipofosfatémico Familiar Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Calcif Tissue Int Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteomalacia / Hipofosfatemia / Enfermedades Genéticas Ligadas al Cromosoma X / Raquitismo Hipofosfatémico Familiar Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Calcif Tissue Int Año: 2022 Tipo del documento: Article