Article
A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report.
Hamostaseologie - 1 Apr 2023
Jiang Shuting, Chen Yuan, Xie Haixiao, Liu Meina, Zheng Xiaoyong, Wang Mingshan
Abstract excerpt
BACKGROUND: Hereditary coagulation factor XII (FXII) deficiency is an autosomal recessive disorder. At present, the contribution of severe FXII deficiency to the development of thromboembolism is still undetermined. There are limited reports on the relationship between the FXII defect and thromboembolism. CASE PRESENTATION: A 27-year-old woman came to our hospital for the treatment of shoulder trauma and cervical...
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