Loading...
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50–60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of t...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Nature Publishing Group
2012
|
| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3234508/ https://ncbi.nlm.nih.gov/pubmed/21863059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.140 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|