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Updated: Aug 22, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis

Hui Yang1, Shuang-Zhu Lin2, Shi-Hui Guan2

  • 1Department of Neonatology, Hainan Women and Children's Medical Center, Haikou 570100, Hainan Province, China.

World Journal of Clinical Cases
|November 7, 2022
PubMed
Abstract

Keywords:
Arthrogryposis, renal dysfunction and cholestasis syndrome 1Case reportChildrenHeterozygous mutationVPS33B gene

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