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

First Author  Grinberg I Year  2004
Journal  Nat Genet Volume  36
Issue  10 Pages  1053-5
PubMed ID  15338008 Mgi Jnum  J:93955
Mgi Id  MGI:3510304 Doi  10.1038/ng1420
Citation  Grinberg I, et al. (2004) Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet 36(10):1053-5
abstractText  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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