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Article

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.

American journal of human genetics - 1 Mar 2002

DeBaun Michael R, Niemitz Emily L, McNeil D Elizabeth, Brandenburg Sheri A, Lee Maxwell P, Feinberg Andrew P

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects. The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15. We hypothesized that different epigenetic...

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Identifiers

PMID: 11813134
DOI: 10.1086/338934
PMCID: PMC384940

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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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