Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Eugenio Maria Mercuri, Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Luigi Tarani, F. Arrigoni, R. Borgatti, R. Romaniello, P. AccorsiE. Fazzi, L. Giordano, L. Pinelli, R. Biancheri, M. Mirabelli, A. Rossi, M. Briguglio, G. Tortorella, L. Chiapparini, S. D’Arrigo, I. Moroni, C. Pantaleoni, L. Spaccini, G. Uziel, A. D'Amico, Ennio Del Giudice, A. Pichiecchio, S. Signorini, R. Battini, M. Casarani, S. Colafati, M. C. Digilio, V. Leuzzi, A. Micalizzi, M. Romani, A. Spalice, L. Travaglini, G. Vitiello, M. Silengo, A. Simonati, Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente

Risultato della ricerca: Contributo in rivistaArticolo in rivista

17 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)75-75
Numero di pagine1
RivistaOrphanet Journal of Rare Diseases
Volume8
DOI
Stato di pubblicazionePubblicato - 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

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