Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1OT1 TSS-DMR, and affects 50% of cases. We hypothesi...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-08-01
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Series: | Clinical Epigenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13148-018-0546-4 |