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A novel mutation in EED associated with overgrowth.
J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19.
J Hum Genet. 2015.
PMID: 25787343
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT.
Cohen AS, et al.
Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5.
Am J Med Genet A. 2014.
PMID: 24903541
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