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

doi:10.1186/1750-1172-8-75

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Article

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

Orphanet journal of rare diseases - 16 May 2013

Ferraris Alessandro, Bernardini Laura, Sabolic Avramovska Vesna, Zanni Ginevra, Loddo Sara, Sukarova-Angelovska Elena, Parisi Valentina, Capalbo Anna, Tumini Stefano, Travaglini Lorena, Mancini Francesca, Duma Filip, Barresi Sabina, Novelli Antonio, Mercuri Eugenio, Tarani Luigi, Bertini Enrico, Dallapiccola Bruno, Valente Enza Maria

Abstract excerpt

BACKGROUND: 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. METHODS AND RESULTS: Using a SNP-array...

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Identifiers

PMID: 23679990
DOI: 10.1186/1750-1172-8-75
PMCID: PMC3667004

Genes

ZIC1
ZIC4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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