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Monozygotic Twins With Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of<i>NF1</i>Gene Promoter Elements, 5' Untranslated region, Exon and Intron 1

1 Dec 2010

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by heterozygotic inactivation of the NF1 tumor suppressor gene at 17q11.2. The associated phenotypes are highly variable, and modifying genes have been proposed to explain at least in part the intriguing expressivity. Given that haploinsufficiency of the NF1 gene product neurofibromin is responsible for some of the clinical...

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PMID: 21142935
DOI: 10.1375/twin.13.6.582

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