A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report
Jiang, S.; Chen, Y.; Xie, H.; Liu, M.; Zheng, X.; Wang, M. · Zeitschrift für Orthopädie und Unfallchirurgie · 2023 · Heft 02 · S. 142 bis 145
Bibliografische Angaben
Zusammenfassung
Abstract 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 disc herniation caused by a car accident. The shoulder trauma was treated with five stitches. After physical examination, imaging examination, and routine coagulation examination, cervical disc h…
