Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.
作者信息
Brioude Frédéric, Hennekam Raoul, Bliek Jet, Coze Carole, Eggermann Thomas, Ferrero Giovanni B, Kratz Christian, Bouc Yves Le, Maas Saskia M, Mackay Deborah J G, Maher Eamonn R, Mussa Alessandro, Netchine Irene
机构信息
Sorbonne Université, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP, Hôpital Trousseau, F-75012, Paris, France.
Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
出版信息
Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15.
Abstract
摘要
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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.专家共识文件：贝克威思-威德曼综合征的临床和分子诊断、筛查及管理：国际专家共识声明。
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Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.贝克威思-维德曼综合征中的肾母细胞瘤与印记中心2的甲基化缺失：重新审视肿瘤监测指南
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