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References

These sources were used to develop the Genetics Home Reference gene summary on the TGFBR1 gene.

Entrez Gene
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98. PubMed citation
OMIM: TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I
Pezzini A, Del Zotto E, Giossi A, Volonghi I, Costa P, Padovani A. Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome. Curr Med Chem. 2012;19(3):454-60. Review. PubMed citation
Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. Review. PubMed citation

Reviewed: March 2012

Published: May 20, 2013