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SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
Authors:Pauline Marzin  Sophie Rondeau  Kimberly A. Aldinger  Jean‐Luc Alessandri  Bertrand Isidor  Delphine Heron  Boris Keren  William B. Dobyns  Valérie Cormier‐Daire
Affiliation:1. Department of Medical Genetics, INSERM UMR 1163, Paris Descartes‐Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France;2. Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Wasington;3. Pole Femme‐Mère ‐Enfants, CH Félix Guyon, CHU de La Réunion, Saint‐Denis, France;4. Department of Medical Genetics, H?tel Dieu, Nantes, France;5. Department of Medical Genetics, Groupe Hospitalier Pitié‐Salpêtrière, APHP, Paris, France;6. Department of Pediatrics, University of Washington, Seattle, Wasington;7. Valérie Cormier‐Daire, Department of Medical Genetics, INSERM UMR 1163, Paris Descartes‐Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
Abstract:
Keywords:autism spectrum disorder  histone methyltransferases  overgrowth  SETD2
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