Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

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第一作者： Mari-Anne,Vals

第一单位： Department of Genetics, Tartu University Hospital, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

作者： Mari-Anne,Vals ^[1] ; Tiina,Kahre ^[2] ; Pille,Mee ^[3] ; Kai,Muru ^[4] ; Eha,Kallas ^[5] ; Olga,Žilina ^[6] ; Vallo,Tillmann ^[5] ; Katrin,Õunap ^[2]

作者单位： Department of Genetics, Tartu University Hospital, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. ^[1] Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. ^[2] United Laboratories, Tartu University Hospital, Tartu, Estonia. ^[3] Department of Genetics, Tartu University Hospital, Tartu, Estonia. ^[4] Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. ^[5] Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. ^[6]

关键词 11p15 duplication 11p15 imprinting disorders Beckwith-Wiedemann syndrome Imprinting control region 1 Imprinting control region 2 Silver-Russell syndrome

DOI 10.1159/000437061

PMID 26732610

发布时间 2022-03-31

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