@Article{Adamczyk-Gruszka2024,
journal="Pielęgniarstwo w Opiece Długoterminowej / Long-Term Care Nursing",
issn="2450-8624",
volume="9",
number="4",
year="2024",
title="A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome",
abstract="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 VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator - 25% of cases). Prevalence is not exactly known. About 100 cases have been described so far. The syndrome has no curative therapy and the prognosis is poor. Patients usually die before 7 months of age due to recurrent infections, severe dehydration, metabolic acidosis, or internal hemorrhage.",
author="Adamczyk-Gruszka, Olga
and Głowacka, Mariola
and Gruszka, Jakub
and Kłosowski, Maciej
and Zwierzyńska, Anna",
pages="14--20",
doi="10.19251/pwod/2024.4(2)",
url="http://dx.doi.org/10.19251/pwod/2024.4(2)"
}