Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C...
| Main Authors: | , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Dove Medical Press
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173641/ |