Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report

• Huvudskapare: Yingjie Zhu (Författare, medförfattare), Dongmei Chen (Författare, medförfattare)
• Materialtyp: Bok
• Publicerad: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• Ämnen: article
• Länkar: Connect to this object online.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive disease caused by VPS33B and VIPAR gene mutations. The main clinical manifestations are congenital joint contracture, renal dysfunction mainly characterized by distal renal tubular dysfunction, and low glutamyl...