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

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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.
Original languageEnglish
Pages (from-to)75-75
Number of pages1
JournalOrphanet Journal of Rare Diseases
Volume8
DOIs
Publication statusPublished - 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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