Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25...

Source: BMC Pediatrics - October 13, 2019 Category: Pediatrics Authors: Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui and Xiaoan Zhang Tags: Case report Source Type: research