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Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.
Skopkova, Martina; Ciljakova, Miriam; Havlicekova, Zuzana; Vojtkova, Jarmila; Valentinova, Lucia; Danis, Daniel; Murgas, Dalibor; Szepeova, Renata; Stanik, Juraj; Banovcin, Peter; Klimes, Iwar; Gasperikova, Daniela.
Afiliação
  • Skopkova M; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Ciljakova M; Department of Children and Adolescents, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia. Electronic address: mimaciljak237@gmail.com.
  • Havlicekova Z; Department of Children and Adolescents, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia.
  • Vojtkova J; Department of Children and Adolescents, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia.
  • Valentinova L; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Danis D; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Murgas D; Department of Pediatric Surgery, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia.
  • Szepeova R; Department of Children and Adolescents, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia.
  • Stanik J; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Banovcin P; Department of Children and Adolescents, University Hospital in Martin, Comenius University Bratislava, Jessenius Faculty of Medicine, Martin, Slovakia. Electronic address: banovcin@jfmed.uniba.sk.
  • Klimes I; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: iwar.klimes@savba.sk.
  • Gasperikova D; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: daniela.gasperikova@savba.sk.
Eur J Med Genet ; 59(9): 429-35, 2016 Sep.
Article em En | MEDLINE | ID: mdl-27523286
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Fatores de Transcrição de Fator Regulador X / Doenças da Vesícula Biliar / Mucosa Gástrica / Atresia Intestinal Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Eslováquia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Fatores de Transcrição de Fator Regulador X / Doenças da Vesícula Biliar / Mucosa Gástrica / Atresia Intestinal Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Eslováquia