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Article

Silencing of <i>CDKN1C</i> (<i>p57<sup>KIP2</sup> </i>) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

1 Nov 2003

Abstract excerpt

CONTEXT: Beckwith-Wiedemann syndrome (BWS) arises by several genetic and epigenetic mechanisms affecting the balance of imprinted gene expression in chromosome 11p15.5. The most frequent alteration associated with BWS is the absence of methylation at the maternal allele of KvDMR1, an intronic CpG island within the KCNQ1 gene. Targeted deletion of KvDMR1 suggests that this locus is an imprinting control region...

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Share to Assisted Reproductive Technology and Twin Pregnancy
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Identifiers

PMID: 14627666
DOI: 10.1136/jmg.40.11.797

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Silencing of <i>CDKN1C</i> (<i>p57<sup>KIP2</sup> </i>) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndromePMID 14627666Read ↗

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