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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: spevak pj. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.
Tetralogy of Fallot and aortic root dilation: a long-term outlook.
Nagy CD, Alejo DE, Corretti MC, Ravekes WJ, Crosson JE, Spevak PJ, Ringel R, Carson KA, Khalil S, Dietz HC, Cameron DE, Vricella LA, Traill TA, Holmes KW. Nagy CD, et al. Among authors: spevak pj. Pediatr Cardiol. 2013 Apr;34(4):809-16. doi: 10.1007/s00246-012-0537-8. Epub 2012 Oct 19. Pediatr Cardiol. 2013. PMID: 23080541
64 results