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Volume 47, Issue 1
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
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Original article
Mutations in 3 genes (
MKS3
,
CC2D2A
and
RPGRIP1L
) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
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