Article
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Cold Spring Harbor molecular case studies - 1 Sept 2017
Hildreth Amber, Wigby Kristen, Chowdhury Shimul, Nahas Shareef, Barea Jaime, Ordonez Paulina, Batalov Sergey, Dimmock David, Kingsmore Stephen
Abstract excerpt
Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 Although characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction because of intrahepatocyte lipid accumulation. We report a 7-wk-old infant who was admitted with neonatal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.