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Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti, Paulo Marcio; Neves, Francisco de Assis Rocha; Hotton, Dominique; Bardet, Claire; de La Dure-Molla, Muriel; Castro, Luiz Claudio; Scher, Maria do Carmo; Barbosa, Maristela Estevão; Ditsch, Christophe; Fricain, Jean-Christophe; de La Faille, Renaud; Figueres, Marie-Lucile; Vargas-Poussou, Rosa; Houillier, Pascal; Chaussain, Catherine; Babajko, Sylvie; Berdal, Ariane; Acevedo, Ana Carolina.
Afiliación
  • Yamaguti PM; Faculty of Health Sciences, Division of Dentistry, Oral Care Center for Inherited Diseases, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
  • Neves FA; Faculty of Health Sciences, Laboratory of Oral Histopathology, University of Brasilia, Brasilia, Brazil.
  • Hotton D; Faculty of Health Sciences, Laboratory of Molecular Pharmacology, University of Brasilia, Brasilia, Brazil.
  • Bardet C; Centre de Recherche des Cordeliers, University Paris-Diderot, INSERM UMR_S1138, Equipe Physiopathologie Orale Moléculaire, Paris, France.
  • de La Dure-Molla M; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Castro LC; INSERM UMR_S1163, Bases moléculaires et physiopathologiques des ostéochondrodysplasies, Institut Imagine, Necker, Paris, France.
  • Scher MD; AP-HP, Referral Center for Rare Buccal and Facial Dysmorphologies CRMR MAFACE, Hôpital Rothschild, Paris, France.
  • Barbosa ME; Unit of Pediatric Endocrinology, University Hospital of Brasilia, Brasilia, Brazil.
  • Ditsch C; Unit of Pediatric Nephrology, University Hospital of Brasilia, Brasilia, Brazil.
  • Fricain JC; Unit of Pediatric Endocrinology, Hospital Materno Infantil de Brasilia, Brasilia, Brazil.
  • de La Faille R; Centre Hospitalier de Dieppe, Dieppe, France.
  • Figueres ML; CHU Bordeaux, Dental school, U1026 Tissue Bioengineering, University of Bordeaux/Inserm, Bordeaux, France.
  • Vargas-Poussou R; Department of Nephrology, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
  • Houillier P; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Université Paris Descartes, Sorbonne Paris Cité, UMR_S 1138, Centre de Recherche des Cordeliers, CNRS ERL_8228, Paris, France.
  • Chaussain C; AP-HP, Department of Genetics, Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), Hôpital European Georges Pompidou, Paris, France.
  • Babajko S; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Université Paris Descartes, Sorbonne Paris Cité, UMR_S 1138, Centre de Recherche des Cordeliers, CNRS ERL_8228, Paris, France.
  • Berdal A; AP-HP, Department of Genetics, Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), Hôpital European Georges Pompidou, Paris, France.
  • Acevedo AC; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Sorbonne Paris Cité, Paris, France.
J Med Genet ; 54(1): 26-37, 2017 01.
Article en En | MEDLINE | ID: mdl-27530400
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido