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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...

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Identifiers

PMID: 29356699
DOI: 10.1097/MBC.0000000000000687

Genes

PROC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans.PMID 29356699Read ↗

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