Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

J Med Genet. 2004 May;41(5):387-93. doi: 10.1136/jmg.2003.016154.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Breakage
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • DNA Mutational Analysis
  • Female
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics
  • Mutation*
  • Repressor Proteins / genetics*
  • Syndrome
  • Zinc Finger E-box Binding Homeobox 2

Substances

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

Associated data

  • OMIM/235730