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Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Petraityte, Gunda; Mikstiene, Violeta; Siavriene, Evelina; Cimbalistiene, Loreta; Maldziene, Zivile; Rancelis, Tautvydas; Vaiteniene, Evelina Marija; Ambrozaityte, Laima; Dapkunas, Justas; Dzindzalieta, Ramunas; Pranckeviciene, Erinija; Kucinskas, Vaidutis; Utkus, Algirdas; Preiksaitiene, Egle.
Afiliação
  • Petraityte G; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Mikstiene V; Biobank of the Lithuanian Population and Rare Disorders, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
  • Siavriene E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Cimbalistiene L; Biobank of the Lithuanian Population and Rare Disorders, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
  • Maldziene Z; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Rancelis T; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Vaiteniene EM; Biobank of the Lithuanian Population and Rare Disorders, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
  • Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Dapkunas J; Biobank of the Lithuanian Population and Rare Disorders, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
  • Dzindzalieta R; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Pranckeviciene E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Kucinskas V; Department of Bioinformatics, Institute of Biotechnology, Life Sciences Center, Vilnius University, LT-10257 Vilnius, Lithuania.
  • Utkus A; Biobank of the Lithuanian Population and Rare Disorders, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
  • Preiksaitiene E; Department of Software Engineering, Institute of Computer Science, Faculty of Mathematics and Informatics, Vilnius University, LT-03225 Vilnius, Lithuania.
Medicina (Kaunas) ; 58(3)2022 Feb 26.
Article em En | MEDLINE | ID: mdl-35334527
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article