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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmi...
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| Udgivet i: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4989213/ https://ncbi.nlm.nih.gov/pubmed/26839037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.3 |
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