Ontology highlight
ABSTRACT:
SUBMITTER: Gomez-Ospina N
PROVIDER: S-EPMC4759630 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Nature communications 20160218
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features ...[more]