Posters

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

ACMG 2017 Poster #598

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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

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