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

Volumn 3, Issue 5, 2017, Pages

  Hildreth, Amber ^a   Wigby, Kristen ^a   Chowdhury, Shimul ^a   Nahas, Shareef ^a   Barea, Jaime ^a   Ordonez, Paulina ^a   Batalov, Sergey ^a   Dimmock, David ^a   Kingsmore, Stephen ^a  

^a SANFORD CONSORTIUM FOR REGENERATIVE MEDICINE   (United States)

Author keywords

abnormal cholesterol homeostasis; clinodactyly of the 5th finger; foam cells with lamellar inclusion bodies; generalized neonatal hypotonia; hepatosplenomegaly; prolonged neonatal jaundice

Indexed keywords

CARRIER PROTEIN; CHOLESTEROL; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN;

CASE REPORT; CHOLESTASIS; COMPLICATION; DNA SEQUENCE; GENETICS; GENOME; HOMOZYGOTE; HUMAN; INFANT; LIVER DISEASE; MALE; METABOLISM; MUTATION; NIEMANN PICK DISEASE; NIEMANN-PICK DISEASE, TYPE C; PROCEDURES;

CARRIER PROTEINS; CHOLESTASIS; CHOLESTEROL; GENOME; HOMOZYGOTE; HUMANS; INFANT; LIVER DISEASES; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; NIEMANN-PICK DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 85030436403     PISSN: None     EISSN: 23732873     Source Type: Journal    
DOI: 10.1101/mcs.a001966     Document Type: Article

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