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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin, Arnaud; Lemoine, Sandrine; Kaufmann, Martin; Breton, Pierre; Nowoczyn, Marie; Ballandonne, Céline; Coudray, Nadia; Mittre, Hervé; Richard, Nicolas; Ryckwaert, Amélie; Lavillaureix, Alinoe; Jones, Glenville; Bacchetta, Justine; Kottler, Marie-Laure.
Afiliação
  • Molin A; Caen University Hospital, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism (OSCAR), Caen, France.
  • Lemoine S; Caen Normandy University, Medical School, Caen, France.
  • Kaufmann M; BioTARGEN, Caen Normandy University, Caen, France.
  • Breton P; OeReCa, Caen Normandy University, Caen, France.
  • Nowoczyn M; Department of Nephrology and Renal Functional Explorations, Edouard Herriot Hospital, Lyon, France.
  • Ballandonne C; University of Lyon, University of Lyon 1, Villeurbanne, France.
  • Coudray N; Queen's University, Department of Biomedical and Molecular Sciences, Kingston, ON, Canada.
  • Mittre H; Caen University Hospital, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism (OSCAR), Caen, France.
  • Richard N; Caen University Hospital, Department of Biochemistry, Caen, France.
  • Ryckwaert A; Caen Normandy University, Medical School, Caen, France.
  • Lavillaureix A; BioTARGEN, Caen Normandy University, Caen, France.
  • Jones G; Caen University Hospital, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism (OSCAR), Caen, France.
  • Bacchetta J; Caen University Hospital, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism (OSCAR), Caen, France.
  • Kottler ML; Caen Normandy University, Medical School, Caen, France.
Front Endocrinol (Lausanne) ; 12: 736240, 2021.
Article em En | MEDLINE | ID: mdl-34721296
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc / Vitamina D3 24-Hidroxilase / Hipercalcemia / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc / Vitamina D3 24-Hidroxilase / Hipercalcemia / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article