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. 2004 Oct;36(10):1053-5.
doi: 10.1038/ng1420. Epub 2004 Aug 29.

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

Inessa Grinberg  1 , Hope Northrup, Holly Ardinger, Chitra Prasad, William B Dobyns, Kathleen J Millen
Affiliations

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

Inessa Grinberg et al. Nat Genet. 2004 Oct.

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.

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