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Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550.
Am J Med Genet A. 2008.
PMID: 18925675
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
Tran-Fadulu V, et al. Among authors: hain jz.
J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.
J Med Genet. 2009.
PMID: 19542084
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