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Genetic testing in aortic aneurysm disease: PRO.
Milewicz DM, Carlson AA, Regalado ES. Milewicz DM, et al. Cardiol Clin. 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017. Cardiol Clin. 2010. PMID: 20452526 Free PMC article. Review.
Mutations in myosin light chain kinase cause familial aortic dissections.
Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM. Wang L, et al. Am J Hum Genet. 2010 Nov 12;87(5):701-7. doi: 10.1016/j.ajhg.2010.10.006. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055718 Free PMC article.
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Kuang SQ, et al. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PLoS Genet. 2011. PMID: 21698135 Free PMC article.