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Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

BACKGROUND: Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromosome 11p15.5. Disease-causing methylation defects...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7959163/
https://ncbi.nlm.nih.gov/pubmed/32430359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106498
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