Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

J Med Genet. 2004 Feb;41(2):e16. doi: 10.1136/jmg.2003.009548.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Female
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Mutation / genetics*
  • Repressor Proteins / genetics*
  • Seizures / diagnosis
  • Seizures / genetics*
  • Syndrome
  • Zinc Finger E-box Binding Homeobox 2
  • Zinc Fingers / genetics

Substances

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