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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: thibodeau sn. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 Free PMC article.
De novo 16p deletion: ATR-16 syndrome.
Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S. Lindor NM, et al. Among authors: thibodeau sn. Am J Med Genet. 1997 Nov 12;72(4):451-4. Am J Med Genet. 1997. PMID: 9375730
534 results