Novel Homozygous NPC1 Mutation Diagnosed in a 2 Month Old with Cholestasis by Rapid Whole-Genome Sequencing

Amber Hildreth D.O., Kristen Wigby, M.D., Shimul Chowdhury Ph.D., Shareef Nahas Ph.D, Jaime Barea, M.D., Paulina Ordonez M.D., David Dimmock M.D., Stephen Kingsmore M.D., Rady Children’s Institute for Genomic Medicine