One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype

Abstract Background Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this d...

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Bibliographic Details
Main Authors: Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge
Format: Article
Language:English
Published: BMC 2022-06-01
Series:BMC Nephrology
Subjects:
Autosomal recessive disorder
Child
Compound heterozygote mutations
ARC syndrome
VPS33B
Online Access:https://doi.org/10.1186/s12882-022-02851-2

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