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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...

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Detalles Bibliográficos
Autores principales: Song, Uisook, Ryu, Young Hye, Hong, Kiteak, Shim, So-Yeon, Park, Seongyeol, Lee, Jeong Seok, Ju, Young Seok, Shin, Seung Han, Lee, Soyoung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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