Clinical characteristics and VPS33B mutations in patients with ARC syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 48, Issue 3, 2009, Pages 348-354

  Jang, Joo Young ^a   Kim, Kyung Mo ^a   Kim, Gu Hwan ^b   Yu, Eunsil ^b   Lee, Jin Joo ^b   Park, Young Seo ^a   Yoo, Han Wook ^a,b  

^a University of Ulsan   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Arthrogryposis; Cholestasis; Incidence; Prenatal diagnosis; Renal tubular acidosis; VPS33B gene

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTRAHEPATIC CHOLESTASIS; KIDNEY BIOPSY; KIDNEY DISEASE; LIVER BIOPSY; MALE; MALFORMATION SYNDROME; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTH KOREA; VPS33B GENE; BILE DUCT ATRESIA; CASE REPORT; CHOLESTASIS; FAILURE TO THRIVE; FATALITY; GENETICS; ICHTHYOSIS; INCIDENCE; INFECTION; KOREA; MULTIPLE MALFORMATION SYNDROME; MUTATION; SYNDROME;

VESICULAR TRANSPORT PROTEIN; VPS33B PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; BILIARY ATRESIA; CHOLESTASIS; FAILURE TO THRIVE; FATAL OUTCOME; FEMALE; HUMANS; ICHTHYOSIS; INCIDENCE; INFANT; INFECTION; KIDNEY DISEASES; KOREA; MALE; MUTATION; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 67650351386     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817fcb3f     Document Type: Article

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