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A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
Petraityte, Gunda; Siauryte, Kamile; Mikstiene, Violeta; Cimbalistiene, Loreta; Kriauciuniene, Dovile; Matuleviciene, Ausra; Utkus, Algirdas; Preiksaitiene, Egle.
Afiliação
  • Petraityte G; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. gunda.petraityte@mf.vu.lt.
  • Siauryte K; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Mikstiene V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Cimbalistiene L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Kriauciuniene D; Clinic of Internal Diseases, Family Medicine and Oncology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Matuleviciene A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Utkus A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Preiksaitiene E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
BMC Endocr Disord ; 21(1): 71, 2021 Apr 15.
Article em En | MEDLINE | ID: mdl-33858404
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Variação Genética / Disostoses / Nucleotídeo Cíclico Fosfodiesterase do Tipo 4 / Deficiência Intelectual País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Lituânia
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Variação Genética / Disostoses / Nucleotídeo Cíclico Fosfodiesterase do Tipo 4 / Deficiência Intelectual País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Lituânia