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

Uisook SongYoung Hye RyuKiteak HongSo-Yeon Shim Seongyeol ParkJeong Seok LeeYoung Seok JuSeung Han Shin Soyoung Lee

Published in: BMC pediatrics (2021)

Severe protein C deficiency can manifest as a fatal coagulopathy in any organ. Early diagnosis and proper treatment, including protein C concentrate replacement, may improve outcomes without serious sequelae.

Keyphrases

protein protein
amino acid
replacement therapy
type diabetes
genome wide
small molecule
gene expression
adipose tissue
metabolic syndrome