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Article

Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.

Acta haematologica - 1 Jan 2021

Barg Assaf A, Dardik Rima, Levin Carina, Koren Ariel, Levy-Mendelovich Sarina, Pode-Shakked Ben, Kenet Gili

Abstract excerpt

Severe protein C deficiency due to biallelic PROC mutations is an extremely rare thrombophilia, most commonly presenting during the neonatal period as purpura fulminans. Despite treatment, severe morbidity and mortality are frequent. The current study reports 3 unrelated patients harboring novel homozygous PROC mutations and their clinical phenotypes. We discuss how the cytoprotective activity of protein C and...

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PMID: 32980846
DOI: 10.1159/000509968

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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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