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A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
- Source :
- Pediatric Dermatology. 34:e171-e173
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
Abstract
- We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.
- Subjects :
- 0301 basic medicine
ARC SYNDROME
Pediatrics
medicine.medical_specialty
Vesicular Transport Proteins
Dermatology
Arthrogryposis–renal dysfunction–cholestasis syndrome
030207 dermatology & venereal diseases
03 medical and health sciences
Fatal Outcome
0302 clinical medicine
medicine
Humans
Renal Insufficiency
Arthrogryposis
Cholestasis
Arc (protein)
business.industry
Infant, Newborn
medicine.disease
030104 developmental biology
Mutation
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Female
business
Subjects
Details
- ISSN :
- 07368046
- Volume :
- 34
- Database :
- OpenAIRE
- Journal :
- Pediatric Dermatology
- Accession number :
- edsair.doi.dedup.....a2dec0eff73ab477b05e2d7ed20fd08d