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.
Inglese
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]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/53523
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 19
  • ???jsp.display-item.citation.isi??? 15
social impact