Associated Papers
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
Kim KM et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Clinical and molecular genetic features of ARC syndrome.
Gissen P et al.
Human Genetics, 2006
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.
Sanseverino MT et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2006
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P et al.
Nature Genetics, 2004
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