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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon, Mathilde; Laugel, Vincent; Flanigan, Kevin M; Pastore, Matthew; Waldrop, Megan A; Rosenfeld, Jill A; Marom, Ronit; Xiao, Rui; Gerard, Amanda; Pichon, Olivier; Le Caignec, Cédric; Gérard, Marion; Dieterich, Klaus; Truitt Cho, Megan; McWalter, Kirsty; Hiatt, Susan; Thompson, Michelle L; Bézieau, Stéphane; Wadley, Alexandrea; Wierenga, Klaas J; Egly, Jean-Marc; Isidor, Bertrand.
Afiliação
  • Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France. bertrand.isidor@chu-nantes.fr.
  • Laugel V; L'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007, Nantes, France. bertrand.isidor@chu-nantes.fr.
  • Flanigan KM; Laboratoire de génétique médicale, INSERM UMR 1112, Faculté de Médecine, 11 rue Humann, 67000, Strasbourg, France.
  • Pastore M; Neurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
  • Waldrop MA; Neurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
  • Rosenfeld JA; Neurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
  • Marom R; Baylor College of Medicine, Houston, TX, USA.
  • Xiao R; Baylor College of Medicine, Houston, TX, USA.
  • Gerard A; Baylor College of Medicine, Houston, TX, USA.
  • Pichon O; Baylor College of Medicine, Houston, TX, USA.
  • Le Caignec C; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Gérard M; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Dieterich K; Service de Génétique Clinique, CHU Caen, Caen, France.
  • Truitt Cho M; Service de Génétique Clinique, CHU Grenoble, Grenoble, France.
  • McWalter K; Clinical Genomics GeneDx, Gaithersburg, MD, USA.
  • Hiatt S; Clinical Genomics GeneDx, Gaithersburg, MD, USA.
  • Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Bézieau S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Wadley A; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Wierenga KJ; L'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007, Nantes, France.
  • Egly JM; University of Oklahoma School of Medicine, Oklahoma City, OK, USA.
  • Isidor B; Mayo Clinic Florida, Jacksonville, FL, 32224, USA.
Genet Med ; 21(12): 2713-2722, 2019 12.
Article em En | MEDLINE | ID: mdl-31155615
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article