Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature.

Liu, Chang; Zhao, Zhen; Wang, Ou; Li, Mei; Xing, Xiaoping; Hsieh, Evelyn; Fukumoto, Seiji; Jiang, Yan; Xia, Weibo

Liu, Chang; Zhao, Zhen; Wang, Ou; Li, Mei; Xing, Xiaoping; Hsieh, Evelyn; Fukumoto, Seiji; Jiang, Yan; Xia, Weibo.

Afiliação

Liu C; Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, 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.
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.
Li M; 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.
Hsieh E; Section of Rheumatology, Department of Internal Medicine, Yale School of Medicine, New Haven, USA.
Fukumoto S; Fujii Memorial Institute of Medical Sciences, Tokushima, Japan.
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. sinojenny@126.com.
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. xiaweibo8301@163.com.

Calcif Tissue Int ; 105(5): 476-486, 2019 11.

Article em En | MEDLINE | ID: mdl-31486862

Assuntos

Raquitismo Hipofosfatêmico Familiar/genética; Fatores de Crescimento de Fibroblastos/genética; Raquitismo/genética; Adolescente; Adulto; Idade de Início; Criança; Pré-Escolar; Feminino; Fator de Crescimento de Fibroblastos 23; Humanos; Lactente; Masculino; Mutação; Adulto Jovem

Palavras-chave

Autosomal dominant hypophosphatemic rickets; Fibroblast growth factor 23; Mutations

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Raquitismo / Raquitismo Hipofosfatêmico Familiar / Fatores de Crescimento de Fibroblastos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Calcif Tissue Int Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

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