Case1: Female, 9 years old, Indian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Article mentions parents have the variant (at end of article); however, no details are provided

CasePresentingHPOs: HP:0000225, HP:0000421

(Gingival bleeding, recurrent epistaxis)

CaseHPOFreeText: Prolonged bleeding from cuts

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed the presence of normal levels of GPIIb, GPIIIa, GPIIb-IIIa and GPIb-IX on the patients platelet surface

PlateletAggregation: In spite of the normal levels of GPIIb-IIIa and normal fibrinogen binding the platelets showed complete absence of aggregation in response to ADP (6 mM) and collagen (4 mg/mL).

CasePreviousTesting: Denaturing gradient gel electrophoresis analysis and DNA sequencing were done to detect abnormalities. DNA sequencing of exon 3 o ITGB3 was performed

Gene: ITGB3

Variant: M_000212.2:c.445T>C (p.Ser149Pro)

LegacyVariant: (p.Ser123Pro)

ClinVar: N/A

CAiD: CA400021997

gnomAD: N/A