VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review

Abstract Background Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results We present two related patients from Kosovo, describing the clinical,...

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Main Authors: Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Arthrogryposis–renal dysfunction–cholestasis syndrome
ARC syndrome
ARCS2
VIPAS39
VIPAR
Online Access:https://doi.org/10.1186/s13023-024-03486-2
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https://doi.org/10.1186/s13023-024-03486-2

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