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Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
BACKGROUND: Severe protein C deficiency is a rare and inherited cause of thrombophilia in neonates. Protein C acts as an anticoagulant, and its deficiency results in vascular thrombosis. Herein, we report a case of protein C deficiency with a homozygous pathogenic variant in a term neonate, with goo...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8520241/ https://www.ncbi.nlm.nih.gov/pubmed/34654403 http://dx.doi.org/10.1186/s12887-021-02923-6 |