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Keywords: Beckwith-Wiedemann syndrome
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Journal Articles
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (5): dmm044123.
Published: 26 May 2020
... such as Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS). In this Review, we discuss (1) how various (epi)genetic lesions lead to the dysregulation of clinically relevant imprinted loci, and (2) how such perturbations may contribute to the developmental defects in BWS and SRS. Given...
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2018) 11 (11): dmm035832.
Published: 16 November 2018
...Simon J. Tunster; Mathew Van de Pette; Hugo D. J. Creeth; Louis Lefebvre; Rosalind M. John ABSTRACT Beckwith–Wiedemann syndrome (BWS) is a complex imprinting disorder involving fetal overgrowth and placentomegaly, and is associated with a variety of genetic and epigenetic mutations affecting...
Includes: Supplementary data