Associated Papers
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
Xu Y et al.
Scientific Reports, 2017
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.
Chen J et al.
Neural Plasticity, 2016
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
Scambler PJ
Pediatric Cardiology, 2010
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Zweier C et al.
American Journal of Human Genetics, 2007
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
Stoller JZ et al.
Human Molecular Genetics, 2005
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