Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome

Am J Med Genet A. 2003 Feb 1;116A(4):385-8. doi: 10.1002/ajmg.a.10855.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • DNA / genetics
  • Face / abnormalities
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / pathology
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / 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
  • DNA