Title |
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
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Published in |
Orphanet Journal of Rare Diseases, May 2013
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DOI | 10.1186/1750-1172-8-75 |
Pubmed ID | |
Authors |
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, Eugenio Mercuri, Luigi Tarani, Italian CBCD Study Group, Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente |
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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Demographic breakdown
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
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Readers by professional status | Count | As % |
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Other | 5 | 13% |
Researcher | 5 | 13% |
Student > Bachelor | 5 | 13% |
Student > Doctoral Student | 4 | 11% |
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