Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

Abstract Background Factor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is commonly known as Hageman trait and is inherited in both autosomal recessive or dominant patterns. Clinically, factor XII deficiency is not assoc...

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Bibliographic Details
Main Authors: Mansour Aljabry, Aljoud Algazlan, Nouf Alsubaie, Shatha Bin Dher, Hassan Semar Aljabri, Ghazi S. Alotaibi
Format: Article
Language:English
Published: BMC 2023-12-01
Series:Journal of Medical Case Reports
Subjects:
Rare factors
FXII
Molecular
Online Access:https://doi.org/10.1186/s13256-023-04238-9

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