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2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
Deletion of a small chromosome gene TBX1 causes tetralogy of Fallot.
Otra causa atribuida a la microsomia hemifacial es la perdida de los factores de transcripcion T- box TBX1 debido a la eleccion cromosomal 22q 11.