Abstract
The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM.
Original language | English |
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Pages (from-to) | 75-75 |
Number of pages | 1 |
Journal | Orphanet Journal of Rare Diseases |
Volume | 8 |
DOIs | |
Publication status | Published - 2013 |
Keywords
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- Dandy-Walker Syndrome
- Face
- Female
- Genetic Association Studies
- Humans
- Phenotype
- Polymorphism, Single Nucleotide
- Transcription Factors
- Wisconsin
- Young Adult
- Zinc Fingers