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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
  1. Correspondence to Dr D Doherty, University of Washington Box 356320, 1959 NE Pacific St, Seattle, WA 98195-0320, USA; ddoher{at}u.washington.edu
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Doherty D, Parisi MA, Finn LS, et al
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Publication history

  • Received February 19, 2009
  • Revised May 12, 2009
  • Accepted May 15, 2009
  • First published July 1, 2009.
Online issue publication 
April 27, 2016

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