COACH syndrome
Definition:
References:
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[1]. A Verloes, et al. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet. 1989 Feb;32(2):227-32. [Content Brief]
[2]. D Doherty, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan;47(1):8-21. [Content Brief]