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Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn, Malte; Kühnisch, Jirko; Bachmann, Sebastian; Seifert, Wenke.
Afiliação
  • Zorn M; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Functional Anatomy, Berlin, Germany.
  • Kühnisch J; Experimental and Clinical Research Center (ECRC), a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Bachmann S; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Seifert W; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Functional Anatomy, Berlin, Germany.
Sci Rep ; 12(1): 9686, 2022 06 11.
Article em En | MEDLINE | ID: mdl-35690661
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article