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Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
Abdalla, Asmahan T; Koedam, Marijke; Drop, Sten L S; Boot, Annemieke M; Abdullah, Mohamed A; van der Eerden, Bram C J.
Afiliação
  • Abdalla AT; Department of Pediatrics, International University of Africa, Khartoum, Sudan. Electronic address: asmahanco@hotmail.com.
  • Koedam M; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Drop SLS; Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC-Sophia Rotterdam, Rotterdam, The Netherlands.
  • Boot AM; Department of Pediatrics, University Medical Center Groningen, University of Groningen, The Netherlands.
  • Abdullah MA; Department of Pediatrics, University of Khartoum, Sudan.
  • van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: b.vandereerden@erasmusmc.nl.
Gene ; 844: 146809, 2022 Nov 30.
Article em En | MEDLINE | ID: mdl-35973571
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Raquitismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Gene Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Raquitismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Gene Ano de publicação: 2022 Tipo de documento: Article