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When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
Hureaux, Marguerite; Chantot-Bastaraud, Sandra; Cassinari, Kévin; Martinez Casado, Edouard; Cuny, Ariane; Frébourg, Thierry; Vargas-Poussou, Rosa; Bréhin, Anne-Claire.
Afiliação
  • Hureaux M; Département de Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015, Paris, France. marguerite.hureaux@aphp.fr.
  • Chantot-Bastaraud S; Reference Centre for Hereditary Renal Diseases (MARHEA), Paris, France. marguerite.hureaux@aphp.fr.
  • Cassinari K; Paris Cardiovascular Research Center, INSERM, Paris, France. marguerite.hureaux@aphp.fr.
  • Martinez Casado E; Assistance Publique-Hôpitaux de Paris, Departement de Genetique Medicale, Hôpital Trousseau, 75012, Paris, France.
  • Cuny A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, 76000, Rouen, France.
  • Frébourg T; Department of Pediatrics, Centre Hospitalier Universitaire de Rouen, 76000, Rouen, France.
  • Vargas-Poussou R; Department of Pediatrics, Centre Hospitalier Universitaire de Rouen, 76000, Rouen, France.
  • Bréhin AC; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, 76000, Rouen, France.
Mol Cytogenet ; 14(1): 23, 2021 May 05.
Article em En | MEDLINE | ID: mdl-33952337
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França