Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report

BACKGROUND: The VPS33B (OMIM: 608552) gene is located on chromosome 15q26.1. We found a female infant with autosomal recessive arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) caused by mutation in VPS33B. The child was diagnosed with ARCS1 (OMIM: 208085) after the whole exome se...

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Detalles Bibliográficos
Autores principales: Yang, Hui, Lin, Shuang-Zhu, Guan, Shi-Hui, Wang, Wan-Qi, Li, Jia-Yi, Yang, Gui-Dan, Zhang, Su-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631127/
https://www.ncbi.nlm.nih.gov/pubmed/36338198
http://dx.doi.org/10.12998/wjcc.v10.i30.11016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631127/
https://www.ncbi.nlm.nih.gov/pubmed/36338198
http://dx.doi.org/10.12998/wjcc.v10.i30.11016

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