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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms un...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Genet Med |
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| Prif Awduron: | , , , , , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Nature Publishing Group US
2019
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687501/ https://ncbi.nlm.nih.gov/pubmed/30635621 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0416-7 |
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