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References

These sources were used to develop the Genetics Home Reference gene summary on the TBX5 gene.

Cerbai E, Sartiani L. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res. 2008 Jun 6;102(11):1304-6. doi: 10.1161/CIRCRESAHA.108.178079. PubMed citation
Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP. Novel TBX5 mutations in patients with Holt-Oram syndrome. Clin Orthop Relat Res. 2007 Sep;462:20-6. PubMed citation
Entrez Gene
Hatcher CJ, McDermott DA. Using the TBX5 transcription factor to grow and sculpt the heart. Am J Med Genet A. 2006 Jul 1;140(13):1414-8. Review. PubMed citation
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23. PubMed citation
Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. Review. PubMed citation
OMIM: T-BOX 5
Stennard FA, Harvey RP. T-box transcription factors and their roles in regulatory hierarchies in the developing heart. Development. 2005 Nov;132(22):4897-910. Review. PubMed citation

Reviewed: December 2009

Published: May 20, 2013