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.
Ferraris, A., Bernardini, L., Sabolic Avramovska, V., Zanni, G., Loddo, S., Sukarova Angelovska, E., Parisi, V., Capalbo, A., Tumini, S., Travaglini, L., Mancini, F., Duma, F., Barresi, S., Novelli, A., Mercuri, E. M., Tarani, L., Bertini, E., Dallapiccola, B., Valente, E., Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions, <<ORPHANET JOURNAL OF RARE DISEASES>>, 2013; 8 (Maggio): 75-75. [doi:10.1186/1750-1172-8-75] [http://hdl.handle.net/10807/53523]
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
Mercuri, Eugenio Maria;
2013
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.
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