The probands are two brothers, 18
Case1: Male, 18 years old, ethnicity not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: See Figure 4 for family pedigree of patients carrying the 288delC mutation in GPIIb
ParentalGenotype: Heterozygous for variant
CasePresentingHPOs: HP:0000978 (Bruising)
CaseHPOFreeText: Mucocutaneous bleeding
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry analysis shown in Fig 1
PlateletAggregation: Platelets failed to aggregate either spontaneously or in response to ADP, adrenaline, collagen or arachidonic acid, but they showed agglutination in the presence of ristocetin
CasePreviousTesting: ITGA2B and ITGB3 both were sequenced
Gene: ITGA2B
Variant: NM_000419.3:c.291del
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA915940464
gnomAD: N/A