Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Published 2009 View Full Article

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Title
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume 47, Issue 1, Pages 8-21
Publisher
BMJ
Online
2009-07-03
DOI
10.1136/jmg.2009.067249

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