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Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem, Meshael M; Alzahrani, Ohoud S; Alghofaili, Lamyaa; Qasem, Ebtesam; Almohanaa, Mai; Alsagheir, Afaf; Bin Abbas, Bassam; Attia, Najya A; Al Shaikh, Adnan; Alzahrani, Ali S.
Afiliação
  • Alswailem MM; Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Alzahrani OS; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Alghofaili L; Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Qasem E; Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Almohanaa M; Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Alsagheir A; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Bin Abbas B; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Attia NA; Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
  • Al Shaikh A; Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
  • Alzahrani AS; Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. aliz@kfshrc.edu.sa.
Endocrine ; 63(2): 361-368, 2019 02.
Article em En | MEDLINE | ID: mdl-30269266
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase / Análise Mutacional de DNA / Consanguinidade / Erros Inatos do Metabolismo de Esteroides / Estudos de Associação Genética / Transtorno 46,XY do Desenvolvimento Sexual / Hipospadia / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase / Análise Mutacional de DNA / Consanguinidade / Erros Inatos do Metabolismo de Esteroides / Estudos de Associação Genética / Transtorno 46,XY do Desenvolvimento Sexual / Hipospadia / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article