Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
Paul Gissen(Birmingham Children's Hospital), Colin A. Johnson(University of Birmingham), Neil V. Morgan(University of Birmingham), Janneke M. Stapelbroek(University Medical Center Utrecht), Tim Forshew(University of Birmingham), Wendy N. Cooper(University of Birmingham), Patrick McKiernan(Birmingham Children's Hospital), Leo W. J. Klomp(University Medical Center Utrecht), Andrew A. M. Morris(Boston Children's Hospital), J. E. Wraith(Boston Children's Hospital), Patricia McClean(St James's University Hospital), Sally Ann Lynch(Centre for Life), Richard J. Thompson(King's College Hospital), Bernard Lo(Hospital for Sick Children), Oliver Quarrell(Sheffield Children's Hospital), Maja Di Rocco(Istituto Giannina Gaslini), Richard C. Trembath(University of Leicester), Hanna Mandel(Technion – Israel Institute of Technology), Sami Wali(Riyadh Armed Forces Hospital), Fiona E. Karet(University of Cambridge), A. S. Knisely(University of Cambridge), Roderick H.J. Houwen(University Medical Center Utrecht), Déirdre Kelly(Birmingham Children's Hospital), Eamonn R. Maher(University of Birmingham)
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