Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series

Abstract Background Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent infections and bleeding by the age of 1 year. We repo...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono
Format: Artykuł
Język:English
Wydane: BMC 2022-02-01
Seria:Journal of Medical Case Reports
Hasła przedmiotowe:
ARC syndrome
VPS33B
VIPAS39
Targeted NGS
Neonatal cholestasis
Mild phenotype
Dostęp online:https://doi.org/10.1186/s13256-022-03279-w

Internet

https://doi.org/10.1186/s13256-022-03279-w

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