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Article

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood advances - 12 Jul 2022

Seidizadeh Omid, Baronciani Luciano, Pagliari Maria Teresa, Cozzi Giovanna, Colpani Paola, Cairo Andrea, Siboni Simona Maria, Biguzzi Eugenia, Peyvandi Flora

Abstract excerpt

von Willebrand disease (VWD) type 2 is caused by qualitative abnormalities of von Willebrand factor (VWF). This study aimed to determine the genotypic and phenotypic characterizations of a large VWD type 2 cohort from Milan. We included 321 patients (54% female) within 148 unrelated families from 1995 to 2021. Patients were fully characterized using laboratory phenotypic tests, and the genotypic diagnosis was...

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Identifiers

PMID: 35452508
DOI: 10.1182/bloodadvances.2022007216
PMCID: PMC9278302

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