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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia; Mihalic, Filip; Gudmundsson, Sanna; Ekvall, Sara; Molin, Anna-Maja; Pham, Mai; Vihinen, Mauno; Lagerstedt-Robinson, Kristina; Nordgren, Ann; Jemth, Per; Ameur, Adam; Annerén, Göran; Wilbe, Maria; Bondeson, Marie-Louise.
Afiliação
  • Johansson J; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Lidéus S; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Frykholm C; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Gunnarsson C; Department of Clinical Genetics, and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Mihalic F; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden.
  • Gudmundsson S; Department of Medical Biochemistry and Microbiology, Uppsala University, Box 582, Husargatan 3, 751 23, Uppsala, Sweden.
  • Ekvall S; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Molin AM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pham M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Vihinen M; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Lagerstedt-Robinson K; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Nordgren A; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Jemth P; Department of Experimental Medical Science, BMC B13, Lund University, SE-22 184, Lund, Sweden.
  • Ameur A; Clinical Genetics, Karolinska University Hospital, Solna, Sweden.
  • Annerén G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Wilbe M; Clinical Genetics, Karolinska University Hospital, Solna, Sweden.
  • Bondeson ML; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Eur J Hum Genet ; 32(3): 333-341, 2024 Mar.
Article em En | MEDLINE | ID: mdl-37277488
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Atrofia Óptica / Surdez / Deficiência Intelectual Ligada ao Cromossomo X / Deficiência Intelectual / Neuroblastoma Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Atrofia Óptica / Surdez / Deficiência Intelectual Ligada ao Cromossomo X / Deficiência Intelectual / Neuroblastoma Idioma: En Ano de publicação: 2024 Tipo de documento: Article