title: Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.
authors.forename: M T V
authors.initials: MT
authors.lastname: Sanseverino
authors.forename: C F M
authors.initials: CF
authors.lastname: de Souza
authors.forename: P
authors.initials: P
authors.lastname: Gissen
authors.forename: A O
authors.initials: AO
authors.lastname: Sordi
authors.forename: J A
authors.initials: JA
authors.lastname: Magalhães
authors.forename: L
authors.initials: L
authors.lastname: Schüler-Faccini
mesh_terms: D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000000981:diagnostic imaging / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D007684:Kidney Tubules; D008297:Male; D009154:Mutation / Q000235:genetics*; D048208:Nuchal Translucency Measurement; D011174:Portugal / Q000208:ethnology; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins