title: [The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
authors.forename: Tian
authors.initials: T
authors.lastname: Lan
authors.forename: Yaoyao
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics; D002779:Cholestasis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C539711:VIPAS39 protein, human; C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins