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.
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container_end_page 234
container_issue 2
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container_title Ultrasound in obstetrics & gynecology
container_volume 28
creator Sanseverino, M. T. V.
de Souza, C. F. M.
Gissen, P.
Sordi, A. O.
Magalhães, J. A.
Schüler‐Faccini, L.
description
doi_str_mv 10.1002/uog.2822
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source Wiley Free Content; MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
subjects 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
title 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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