A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference7 articles.
1. Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review
2. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
3. Clinical and molecular genetic features of ARC syndrome
4. Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children
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1. Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings;Clinical Case Reports;2024-05
2. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype;BMC Nephrology;2022-06-27
3. Arthrogryposis–renalis diszfunkció–cholestasis szindróma;Orvosi Hetilap;2022-01-09
4. Pediatric Cholestatic Liver Disease;Pediatric Gastrointestinal and Liver Disease;2021
5. A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype;Case Reports in Genetics;2020-09-24
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