Article
A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2018
Zhang Huifei, Bi Xiaojie, Su Zhengxian, Tu Xi, Wang Lizhen, Shen Bo
Abstract excerpt
: Neonatal purpura fulminans is a rare, life-threatening disease caused by severe congenital deficiency of protein C (PC) because of homozygous or compound heterozygous mutations in the PROC gene. Mutation analysis plays a critical role in diagnosing the disorder and offering prenatal guidance. In this study, we identified a genetic defect in the PROC gene leading to neonatal purpura fulminans. The propositus had...
Topics
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Protein C
- Purpura Fulminans