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LIT1 and H19 methylation defects in isolated hemihyperplasia
Author(s) -
Martin Rick A.,
Grange Dorothy K.,
Zehnbauer Babara,
DeBaun Michael R.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30578
Subject(s) - methylation , epigenetics , phenotype , beckwith–wiedemann syndrome , genetics , allele , dna methylation , biology , genomic imprinting , gene , gene expression
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. © 2005 Wiley‐Liss, Inc.