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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-31793730
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA-Binding Proteins / Trichothiodystrophy Syndromes / Agenesis of Corpus Callosum / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA-Binding Proteins / Trichothiodystrophy Syndromes / Agenesis of Corpus Callosum / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: