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

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 disease d...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Lianhu, Li, Dan, Zhang, Ting, Xiao, Yongmei, Wang, Yizhong, Ge, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235188/
https://www.ncbi.nlm.nih.gov/pubmed/35761207
http://dx.doi.org/10.1186/s12882-022-02851-2

Ejemplares similares

Ejemplares similares