Condition: Shprintzen syndrome


rs28939675 in TBX1 gene and Shprintzen syndrome PMID 14585638 2003 Role of TBX1 in human del22q11.2 syndrome.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PMID 17273972 2007 We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.

PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

PMID 25569435 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome.