Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings. - Suppr | 超能文献

Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings.

作者信息

Rehman Rahiya, Gonzalez Leslia, Kolbe Kelsey, Faizan Mohammed Khurram, Brucker William, Cerezo Carolina

机构信息

Department of Pediatrics Warren Alpert Medical School/Brown University Providence Rhode Island USA.

Division of Pediatric Gastroenterology, Nutrition and Liver Diseases Warren Alpert Medical School/Brown University Providence Rhode Island USA.

出版信息

Clin Case Rep. 2024 May 1;12(5):e8853. doi: 10.1002/ccr3.8853. eCollection 2024 May.

DOI:10.1002/ccr3.8853

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11063607/

Abstract

This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ca0/11063607/c640a747239f/CCR3-12-e8853-g001.jpg

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本文引用的文献

1

A Novel Mutation of 33 Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.

Case Rep Genet. 2020 Sep 24;2020:8872294. doi: 10.1155/2020/8872294. eCollection 2020.

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A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.

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