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

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 report the f...

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Detalles Bibliográficos
Autores principales: Satomura, Yoshinori, Bessho, Kazuhiko, Nawa, Nobutoshi, Kondo, Hidehito, Ito, Shogo, Togawa, Takao, Yano, Masanao, Yamano, Yuki, Inoue, Taisuke, Fukui, Miho, Onuma, Shinsuke, Fukuoka, Tomoya, Yasuda, Kie, Kimura, Takeshi, Tachibana, Makiko, Kitaoka, Taichi, Nabatame, Shin, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841066/
https://www.ncbi.nlm.nih.gov/pubmed/35151346
http://dx.doi.org/10.1186/s13256-022-03279-w

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