Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
Cold Spring Harbor Molecular Case Studies
Rohanizadegan, Mersedeh M; Abdo, Sara M SM; O'Donnell-Luria, Anne A; Mihalek, Ivana I; Chen, Peggy P; Sanders, Marilyn M; Leeman, Kristen K; Cho, Megan M; Hung, Christina C; Bodamer, Olaf O
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.