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Article

CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.

Journal of medical genetics - 1 Jul 1999

Algar E M, Deeble G J, Smith P J

Abstract excerpt

In this study, we have examined CDKN1C expression in BWS patients with allele imbalance (AI) affecting the 11p15 region. Two of two informative patients with AI, attributable to mosaic paternal isodisomy, exhibited reduced levels of CDKN1C expression in the liver and kidney, respectively, relative to expression levels in the equivalent tissues in normal controls. Although overall expression was reduced, some...

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11
Share to Cyclin-Dependent Kinase Inhibitor p57

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Identifiers

PMID: 10424812
PMCID: PMC1734409

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.Semantic proximity Read ↗

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Semantic proximity Read ↗

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Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.Semantic proximity Read ↗

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