Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.
Sanseverino
M T V
MT
de Souza
C F M
CF
Gissen
P
P
Sordi
A O
AO
Magalhães
J A
JA
Schüler-Faccini
L
L
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*
C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins