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De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann, Jan Hendrik; Du, Chen; Morlot, Susanne; Schmidt, Gunnar; Auber, Bernd; Kaune, Beate; Göhring, Gudrun; Ripperger, Tim; Schlegelberger, Brigitte; Hofmann, Winfried; Smol, Thomas; Ait-Yahya, Emilie; Raimbault, Anna; Lambilliotte, Anne; Petit, Florence; Steinemann, Doris.
Afiliação
  • Niemann JH; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Du C; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Morlot S; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Schmidt G; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Auber B; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Kaune B; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Göhring G; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Ripperger T; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Hofmann W; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Smol T; CHU Lille, Laboratoire de Génétique Médicale, Lille, France.
  • Ait-Yahya E; CHU Lille, Bioinformatics Unit, Molecular Biology Facility, Lille, France.
  • Raimbault A; Hôpital Saint Louis, Service d'Hématologie Biologique, Paris, France.
  • Lambilliotte A; CHU Lille, Service d'Hématologie Pédiatrique, Lille, France.
  • Petit F; CHU Lille, Clinique de Génétique, Lille, France.
  • Steinemann D; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
Clin Genet ; 98(4): 374-378, 2020 10.
Article em En | MEDLINE | ID: mdl-32627184
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Proteínas rap de Ligação ao GTP / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Proteínas rap de Ligação ao GTP / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha