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

Subjects

Subjects :

Male
medicine.medical_specialty
ARC SYNDROME
Vesicular Transport Proteins
Cholestasis, Intrahepatic
Cholestasis
Internal medicine
medicine
Humans
Radiology, Nuclear Medicine and imaging
Gene
Increased nuchal translucency
Arthrogryposis
Pregnancy
Fetus
Radiological and Ultrasound Technology
Portugal
Specific mutation
Obstetrics
business.industry
Homozygote
Obstetrics and Gynecology
Infant
General Medicine
Syndrome
medicine.disease
Endocrinology
Kidney Tubules
Reproductive Medicine
Mutation
Kidney Diseases
medicine.symptom
business
Nuchal Translucency Measurement

Details

ISSN :

09607692

Volume :

28

Issue :

2

Database :

OpenAIRE

Journal :

Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Accession number :

edsair.doi.dedup.....d6c66c9586f97b98171360692842a5eb