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GENATLAS PHENOTYPE
last update : 11-04-2009
Symbol GT2
Location 17q21.31
Name Glanzmann thrombasthenia
Other name(s) thrombasthenia of Glanzmann and Naegeli
Corresponding gene ITGA2B
Other symbol(s) GP2B, GT
Main clinical features
  • early onset bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name integrin, alpha2B (ITGA2B)
    Remark(s) GpIIb-GpIIIa complex deficiency