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

Eugenio Maria Mercuri

doi:10.1186/1750-1172-8-75

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

Eugenio Maria Mercuri

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	75-75
Numero di pagine	1
Rivista	Orphanet Journal of Rare Diseases
Volume	8
DOI	https://doi.org/10.1186/1750-1172-8-75
Stato di pubblicazione	Pubblicato - 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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10.1186/1750-1172-8-75

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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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AB - 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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KW - Female

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ER -

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

Abstract

Keywords

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