A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome

A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome

ARCS1 -arthrogryposis is an autosomal recessive multisystem disorder. The disease affects the liver, kidneys, skin, central nervous system, musculoskeletal system. It is the result of mutations in the genes VPS33B (Vacuolar protein sorting 33 homolog B) on chromosome 15q26.1 - 75% of cases) and VIPA...

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Bibliographic Details
Main Authors: Olga Adamczyk-Gruszka, Mariola Głowacka, Jakub Gruszka, Maciej Kłosowski, Anna Zwierzyńska
Format: Article
Language:English
Published: Scientific Publisher of the Mazovian Academy in Płock 2025-01-01
Series:Pielęgniarstwo w Opiece Długoterminowej
Subjects:
arcs1
arthrogryposis
renal dysfunction syndrome
cholestasis
vps33b protein
Online Access:https://www.termedia.pl/A-new-aberration-in-the-VPS33B-gene-a-description-of-the-familial-occurrence-of-ARCS1-syndrome,150,55573,1,1.html
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