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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-12-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-023-04238-9 |