Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

• Autors principals: Uisook Song (Autor), Young Hye Ryu (Autor), Kiteak Hong (Autor), So-Yeon Shim (Autor), Seongyeol Park (Autor), Jeong Seok Lee (Autor), Young Seok Ju (Autor), Seung Han Shin (Autor), Soyoung Lee (Autor)
• Format: Llibre
• Publicat: BMC, 2021-10-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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,...