Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.

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第一作者： Annemiek M,Landlust

第一单位： Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands. Electronic address: a.landlust@lentis.nl.

作者： Annemiek M,Landlust ^[1] ; Sylvia A,Koza ^[2] ; Maya,Carbin ^[3] ; Margreet,Walinga ^[2] ; Sandra,Robert ^[4] ; Jennifer,Cooke ^[5] ; Klea,Vyshka ^[6] ; European Phelan-McDermid syndrome consortium ^[7] ; Ingrid D C,van Balkom ^[8] ; Conny,van Ravenswaaij-Arts

作者单位： Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands. Electronic address: a.landlust@lentis.nl. ^[1] University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands. ^[2] Phelan-McDermid Association, the Netherlands. ^[3] (Swiss Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Ulm, Germany. ^[4] Forensic and Neurodevelopmental Sciences Department, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, United Kingdom. ^[5] ERN ITHACA Guideline Working Group, ERN ITHACA Project Management & Legal Office, Clinical Genetics Department, Robert Debré University Hospital, Paris, France. ^[6] Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, the Netherlands. ^[7] Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands. ^[8]

关键词 Guideline Parental stress Parental survey Phelan-McDermid syndrome SHANK3

主题词人类(Humans);染色体障碍(Chromosome Disorders);染色体缺失(Chromosome Deletion);双亲(Parents);染色体, 人, 22对(Chromosomes, Human, Pair 22)

DOI 10.1016/j.ejmg.2023.104771

PMID 37120079

发布时间 2023-06-05

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