LIT1 and H19 methylation defects in isolated hemihyperplasia.

Martin RA, Grange DK, Zehnbauer B, Debaun MR
Am J Med Genet A. 2005 134A (2): 129-31

PMID: 15651076 · DOI:10.1002/ajmg.a.30578

We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome.

(c) 2005 Wiley-Liss, Inc.

MeSH Terms (17)

Abnormalities, Multiple Adolescent Beckwith-Wiedemann Syndrome Body Height Body Weight Child Child, Preschool DNA Methylation Female Humans Infant Male Membrane Proteins Potassium Channels, Voltage-Gated RNA, Long Noncoding RNA, Untranslated Uniparental Disomy

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