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

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...

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Detalles Bibliográficos
Autores principales: Zhu, Yingjie, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768213/
https://www.ncbi.nlm.nih.gov/pubmed/36568436
http://dx.doi.org/10.3389/fped.2022.1041080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768213/
https://www.ncbi.nlm.nih.gov/pubmed/36568436
http://dx.doi.org/10.3389/fped.2022.1041080

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