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...

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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

Internet

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

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