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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...

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Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online dostop: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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