Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
Author:
Affiliation:
1. The Department of PediatricsJinshan Hospital of Fudan University Shanghai China
2. The Center for Liver DiseasesChildren's Hospital of Fudan University Shanghai China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23770
Reference30 articles.
1. Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused By VIPAR Mutation
2. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report
3. VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes
4. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype
5. Progressive Familial Intrahepatic Cholestasis
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1. Paediatric research sets new standards for therapy in paediatric and adult cholestasis;The Lancet Child & Adolescent Health;2024-01
2. Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review;International Journal of Molecular Sciences;2023-08-31
3. Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis;Frontiers in Pharmacology;2023-05-31
4. Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders;World Journal of Gastroenterology;2023-04-14
5. Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report;Frontiers in Pediatrics;2022-12-07
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