Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Facies*
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Mutation
  • Recurrence
  • Repressor Proteins / genetics*
  • Risk
  • Siblings
  • Syndrome
  • Zinc Finger E-box Binding Homeobox 2

Substances

  • Homeodomain Proteins
  • Repressor Proteins
  • ZEB2 protein, human
  • Zinc Finger E-box Binding Homeobox 2