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Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
Author(s) -
Descartes Maria,
Romp Robb,
Franklin Judy,
Biggio Joseph R.,
Zehnbauer Barbara
Publication year - 2008
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.32421
Subject(s) - beckwith–wiedemann syndrome , dna methylation , medicine , biology , genetics , gene , gene expression
Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. © 2008 Wiley‐Liss, Inc.
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