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Genomic imprinting Disomy and disease resolved?

Nicholas Hastie
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Nicholas Hastie: the MRC Human Genetics Unit, Western General Hospital

Nature, 1997, vol. 389, issue 6653, 785-787

Abstract: Beckwith-Wiedemann syndrome is a genetic disease that results in abnormal overgrowth of certain organs, thickening of long bones and other symptoms. New work shows that some of these symptoms arise because affected babies express two copies of the IGF2 gene. This complements studies showing that some of the other symptoms are caused by loss of function of the p57Kip2 protein. So we may soon have a complete picture of the interacting biological pathways that cause the syndrome.

Date: 1997
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DOI: 10.1038/39732

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