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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
- Paul Gissen
- , Colin A Johnson
- , Neil V Morgan
- , Janneke M Stapelbroek
- , Tim Forshew
- , Wendy N Cooper
- , Patrick J McKiernan
- , Leo W J Klomp
- , Andrew A M Morris
- , James E Wraith
- , Patricia McClean
- , Sally A Lynch
- , Richard J Thompson
- , Bryan Lo
- , Oliver W Quarrell
- , Maja Di Rocco
- , Richard C Trembath
- , Hanna Mandel
- , S Wali
- , Fiona E Karet
- , A S Knisely
- , Roderick H J Houwen
- , Deirdre A Kelly
- & Eamonn R Maher