Reply to Brioude et al
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0094-y
Abstract: We thank Brioude et al. for their interest in our report on children with Beckwith-Wiedemann Syndrome (BWS) who presented with Wilms tumors (WT) or preneoplastic lesions and an initial molecular diagnosis of loss of methylation… read more here.
Keywords: risk; ic2; number; ic2 lom ... See more keywords
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann Syndrome due to loss of methylation at imprinting control region 2.
Sign Up to like & getrecommendations! Published in 2021 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006115
Abstract: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic alterations on chromosome 11p15.5. Most molecular changes are sporadic and are thought to occur in a mosaic pattern. Thereby, the distribution of affected cells… read more here.
Keywords: mosaicism; loss methylation; beckwith wiedemann; wiedemann syndrome ... See more keywords
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Laboratory Medicine"
DOI: 10.3343/alm.2022.42.6.668
Abstract: Background Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting… read more here.
Keywords: ic2 lom; methylation; wiedemann syndrome; beckwith wiedemann ... See more keywords