TBX1
See also
DiGeorge syndrome
22q11
TBXs
References
Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A. Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions. Am J Hum Genet. 2007 Mar;80(3):510-7. PMID: #17273972#
Baldini A. Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev. 2005 Jun;15(3):279-84. PMID: #15917203#