Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: From molecular genetics to clinical features

Italian Journal of Pediatrics

Volumn 40, Issue 1, 2014, Pages

  Zhou, Yaoyao ^a   Zhang, Junfeng ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

ARC syndrome; Arthrogryposis; Cholestasis; Renal dysfunction; VIPAR; VPS33B

Indexed keywords

APICAL MEMBRANE; ARTHROGRYPOSIS; ARTHROGRYPOSIS RENAL DYSFUNCTION CHOLESTASIS; CLINICAL FEATURE; DISEASE ASSOCIATION; HUMAN; KIDNEY TUBULE DISORDER; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; OBSTRUCTIVE JAUNDICE; PLEIOTROPY; PROGNOSIS; PROTEIN PHOSPHORYLATION; PROTEIN RESTRICTION; REVIEW; RISK ASSESSMENT; UBIQUITINATION; CHOLESTASIS; DNA MUTATIONAL ANALYSIS; GENETICS; KIDNEY FAILURE; METABOLISM; MOLECULAR BIOLOGY; MUTATION; PHENOTYPE; PROCEDURES;

DNA; VESICULAR TRANSPORT PROTEIN; VIPAS39 PROTEIN, HUMAN; VPS33B PROTEIN, HUMAN;

ARTHROGRYPOSIS; CHOLESTASIS; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR BIOLOGY; MUTATION; PHENOTYPE; RENAL INSUFFICIENCY; VESICULAR TRANSPORT PROTEINS;

EID: 84907681924     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/s13052-014-0077-3     Document Type: Review

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