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Article

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.

Journal of clinical laboratory analysis - 1 Jan 2023

Cai Ruimin, Li Yi, Xu Wei, Gao Xue, Feng Qiang

Abstract excerpt

BACKGROUND: Congenital coagulation factor VII (FVII) deficiency is a rare, autosomal-recessive haemorrhagic disorder with an estimated incidence of 1:500,000. This disorder is caused by mutations in the F7 gene. CASE DESCRIPTION: Here, we report a pedigree of congenital FVII deficiency. The proband was a 30-year-old female with severely low FVII activity and a history of menorrhagia and epistaxis since her...

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Identifiers

PMID: 36572978
DOI: 10.1002/jcla.24768
PMCID: PMC9833959

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Source receipt: pubmed, retrieved 7 Sept 2026.

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