Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Abstract Background Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects of BWS patients in China. Methods Thirty-one patients with clinical susp...

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Bibliographic Details
Main Authors: Ruixue Wang, Yongmei Xiao, Dan Li, Hui Hu, Xiaolu Li, Ting Ge, Ronghua Yu, Yizhong Wang, Ting Zhang
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Italian Journal of Pediatrics
Subjects:
Beckwith-Wiedemann syndrome
Chromosome 11p15.5
Imprinting center
Macroglossia
Methylation abnormality
Online Access:http://link.springer.com/article/10.1186/s13052-020-0819-3

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http://link.springer.com/article/10.1186/s13052-020-0819-3

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