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Nat Genet. 2004 Oct;36(10):1053-5. Epub 2004 Aug 29.

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

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  • 1Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

Abstract

Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial deletions in several individuals with DWM, we defined the first critical region associated with DWM, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4. Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation.

PMID:
15338008
[PubMed - indexed for MEDLINE]
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