Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum

Am J Med Genet A. 2009 Jul;149A(7):1592-4. doi: 10.1002/ajmg.a.32940.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acrocallosal Syndrome / complications
  • Acrocallosal Syndrome / diagnosis
  • Acrocallosal Syndrome / genetics*
  • Hedgehog Proteins / genetics*
  • Humans
  • Infant
  • Inheritance Patterns / physiology
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / diagnosis
  • Malformations of Cortical Development / genetics*
  • Mothers
  • Polymorphism, Genetic*

Substances

  • Hedgehog Proteins
  • SHH protein, human