Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene

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Veröffentlicht in:	Ultrasound in obstetrics & gynecology 2006-08, Vol.28 (2), p.233-234
Hauptverfasser:	Sanseverino, M. T. V., de Souza, C. F. M., Gissen, P., Sordi, A. O., Magalhães, J. A., Schüler‐Faccini, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Arthrogryposis - diagnostic imaging Arthrogryposis - genetics Cholestasis, Intrahepatic - diagnostic imaging Cholestasis, Intrahepatic - genetics Homozygote Humans Infant Kidney Diseases - diagnostic imaging Kidney Diseases - genetics Kidney Tubules Male Mutation - genetics Nuchal Translucency Measurement Portugal - ethnology Syndrome Vesicular Transport Proteins - genetics
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