Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family

Hereditary Protein C (PC) deficiency is a rare genetic disorder caused by PROC gene mutation. In this article, we report a case of PC deficiency in a Chinese family due to a novel PROC gene mutation.The proband presented with recurrent cerebral infarction over the course of the previous 3 years. He was admitted to the hospital due to signs of mental retardation.Physical examination, laboratory tests, and magnetic resonance imaging demonstrated...