Condition: Glanzmann Thrombasthenia, Autosomal Dominant


rs879255514 in ITGA2B gene and Glanzmann Thrombasthenia, Autosomal Dominant PMID 21454453 2011 Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

PMID 9834222 1998 R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.

rs398122372 in ITGB3;THCAT158 gene and Glanzmann Thrombasthenia, Autosomal Dominant PMID 29380037 2018 A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

PMID 18065693 2008 A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.