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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan; El-Hattab, Ayman W.
Afiliação
  • Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
  • Burgemeister AL; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
  • Cantagrel V; Genetikum, Genetic Counseling and Diagnostics, 70173 Stuttgart, Germany.
  • Amiel J; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France.
  • Siquier-Pernet K; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Université Paris Cité, Imagine Institute, 75015 Paris, France.
  • Boddaert N; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France.
  • Hertecant J; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Necker Enfants Malades Hospital, 75015 Paris, France.
  • Kannouche PL; Division of Genetics and Metabolics, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
  • Pouvelle C; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France.
  • Htun S; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France.
  • Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Beetz C; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Diego-Alvarez D; Centogene GmbH, 18055 Rostock, Germany.
  • Kampe K; Centogene GmbH, 18055 Rostock, Germany.
  • Fleischer N; Centogene GmbH, 18055 Rostock, Germany.
  • Awamleh Z; FDNA Inc., Boston, MA 02111, USA.
  • Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
  • Kopajtich R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
  • Meitinger T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Suleiman J; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A1, Canada.
  • El-Hattab AW; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Hum Mol Genet ; 31(18): 3083-3094, 2022 09 10.
Article em En | MEDLINE | ID: mdl-35512351

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Código das Histonas Limite: Animals Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Código das Histonas Limite: Animals Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha