Factor XIII deficiency due to compound heterozygosity for 2 F13A1 variants

Background: Factor (F)XIII deficiency is a rare bleeding disorder. Genomic studies, adjunctive to biochemical assays, can provide valuable diagnostic and clinical clarity. Key Clinical Question: We describe a case of a child with FXIII deficiency in which genomic studies were crucial for accurate di...

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Hlavní autoři:	Jodie Odame, Caroline Malcolmson, Cindy Wakefield, Tammy Bourque, David Lillicrap, Orla Rawley, Mackenzie Bowman, Manuel Carcao, Vanessa Bouskill
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2025-07-01
Edice:	Research and Practice in Thrombosis and Haemostasis
Témata:	case report FXIII deficiency FXIII diagnosis genetic mutational analysis
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2475037925003024
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