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

• Main Authors: Uisook Song (Author), Young Hye Ryu (Author), Kiteak Hong (Author), So-Yeon Shim (Author), Seongyeol Park (Author), Jeong Seok Lee (Author), Young Seok Ju (Author), Seung Han Shin (Author), Soyoung Lee (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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,...