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Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavriene, Evelina; Mikstiene, Violeta; Radzevicius, Darius; Maldziene, Zivile; Rancelis, Tautvydas; Petraityte, Gunda; Tamulyte, Giedre; Kavaliauskiene, Ingrida; Sarkinas, Laurynas; Utkus, Algirdas; Kucinskas, Vaidutis; Preiksaitiene, Egle.
  • Siavriene E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Mikstiene V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Radzevicius D; The Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
  • Maldziene Z; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Rancelis T; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Petraityte G; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Tamulyte G; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Kavaliauskiene I; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Sarkinas L; The Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
  • Utkus A; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Kucinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
  • Preiksaitiene E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Mol Genet Genomic Med ; 7(9): e878, 2019 09.
Article en En | MEDLINE | ID: mdl-31325247
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acrocefalosindactilia / Predisposición Genética a la Enfermedad / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies Límite: Child / Female / Humans / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acrocefalosindactilia / Predisposición Genética a la Enfermedad / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies Límite: Child / Female / Humans / Middle aged Idioma: En Año: 2019 Tipo del documento: Article