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Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Tessarech, Marine; Gorce, Magali; Boussion, Françoise; Bault, Jean-Philippe; Triau, Stéphane; Charif, Majida; Khiaty, Salim; Delorme, Benoit; Guichet, Agnès; Ziegler, Alban; Bris, Céline; Laquerrière, Annie; Fallet-Bianco, Catherine; Jacquette, Aurélia; Salhi, Houria; Héron, Delphine; Reynier, Pascal; Procaccio, Vincent; Bonneau, Dominique; Colin, Estelle.
Afiliação
  • Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
  • Gorce M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
  • Boussion F; Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France.
  • Bault JP; Department of Gynecology and Obstetrics, CHI Poissy-Saint-Germain, Poissy, France.
  • Triau S; Department of Gynecology and Obstetrics, CH Bicêtre, Kremlin-Bicêtre, France.
  • Charif M; Department of Pathology, Angers University Hospital, Angers, France.
  • Khiaty S; UMR CNRS 6015-INSERM 1083 and PREMMI, Mitovasc Institute, Angers, France.
  • Delorme B; UMR CNRS 6015-INSERM 1083 and PREMMI, Mitovasc Institute, Angers, France.
  • Guichet A; Department of Radiology, Angers University Hospital, Angers, France.
  • Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
  • Bris C; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
  • Laquerrière A; UMR CNRS 6015-INSERM 1083 and PREMMI, Mitovasc Institute, Angers, France.
  • Fallet-Bianco C; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
  • Jacquette A; UMR CNRS 6015-INSERM 1083 and PREMMI, Mitovasc Institute, Angers, France.
  • Salhi H; Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Héron D; Department of Pathology, Rouen University Hospital, Rouen, France.
  • Reynier P; Department of Neuropathology, Saint Anne Hospital, Paris, France.
  • Procaccio V; Clinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
  • Bonneau D; Department of Pathology, Cochin Saint Vincent de Paul Hospital, APHP, Paris, France.
  • Colin E; Department of Medical Genetics, Trousseau Hospital, APHP, Paris, France.
Am J Med Genet A ; 182(3): 565-569, 2020 03.
Article em En | MEDLINE | ID: mdl-31793730
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a DNA / Síndromes de Tricotiodistrofia / Agenesia do Corpo Caloso / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a DNA / Síndromes de Tricotiodistrofia / Agenesia do Corpo Caloso / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França