Poole, Rebecca L <br/><br/>
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.  [electronic resource] 

 -  European journal of human genetics : EJHG  Feb 2012 
 - 240-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2011.166  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Base Sequence<br/>Beckwith-Wiedemann Syndrome--diagnosis<br/>Binding Sites--genetics<br/>Child, Preschool<br/>DNA Methylation<br/>Gene Order<br/>Genomic Imprinting<br/>Genotype<br/>Humans<br/>Infant<br/>Insulin-Like Growth Factor II--genetics<br/>Male<br/>Mutation<br/>Octamer Transcription Factors--metabolism<br/>Pedigree<br/>Phenotype<br/>Promoter Regions, Genetic<br/>RNA, Long Noncoding<br/>RNA, Untranslated--genetics