Author(s): Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB,
Abstract Share this page
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.
This article was published in Nat Genet
and referenced in Pediatric Dental Care