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New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui, Baoheng; Song, Yanning; Su, Zhe; Luo, Fei-Hong; Chen, Linqi; Wang, Xiumin; Chen, Ruimin; Yang, Yu; Wang, Jin; Zhao, Xiu; Fan, Lijun; Liu, Xia; Wang, Yi; Chen, Shaoke; Gong, Chunxiu.
Afiliação
  • Gui B; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Song Y; Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
  • Su Z; Department of Endocrinology and Metabolism, Shenzhen Children's Hospital, Shenzhen, China.
  • Luo FH; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Shanghai Jiao Tong Univ, Shanghai, China.
  • Chen L; Department of Endocrinology, Metabolism, and Genetic Diseases, Children's Hospital of Soochow University, Suzhou, China.
  • Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Chen R; Department of Endocrinology, Fuzhou Children's Hospital of Fujian, Fujian Medical University Teaching Hospital, Fuzhou, China.
  • Yang Y; Department of Endocrine Genetics and Metabolism, Children's Hospital of Jiangxi Province, Nanchang, China.
  • Wang J; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Zhao X; Department of Endocrinology, Metabolism, and Genetic Diseases, Shenzhen Children's Hospital, Shenzhen, China.
  • Fan L; Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
  • Liu X; Department of Endocrinology and Metabolism, Shenzhen Children's Hospital, Shenzhen, China.
  • Wang Y; Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
  • Chen S; Department of Pediatrics Endocrinology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China chunxiugong@sina.com chenshaoke123@163.com.
  • Gong C; Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing, China chunxiugong@sina.com chenshaoke123@163.com.
J Med Genet ; 56(10): 685-692, 2019 10.
Article em En | MEDLINE | ID: mdl-31186340
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase / Erros Inatos do Metabolismo de Esteroides / Transtorno 46,XY do Desenvolvimento Sexual / Hipospadia / Proteínas de Membrana Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase / Erros Inatos do Metabolismo de Esteroides / Transtorno 46,XY do Desenvolvimento Sexual / Hipospadia / Proteínas de Membrana Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China