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

Subjects

Subjects :

Arthrogryposis diagnostic imaging
Cholestasis, Intrahepatic diagnostic imaging
Homozygote
Humans
Infant
Kidney Diseases diagnostic imaging
Kidney Tubules
Male
Portugal ethnology
Syndrome
Arthrogryposis genetics
Cholestasis, Intrahepatic genetics
Kidney Diseases genetics
Mutation genetics
Nuchal Translucency Measurement
Vesicular Transport Proteins genetics

Details

Language :

English

ISSN :

0960-7692

Volume :

28

Issue :

2

Database :

MEDLINE

Journal :

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Publication Type :

Academic Journal

Accession number :

16758438

Full Text :

https://doi.org/10.1002/uog.2822