Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

Am J Med Genet A. 2010 May;152A(5):1310-3. doi: 10.1002/ajmg.a.33239.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Eye / growth & development*
  • Eye Abnormalities / genetics*
  • Female
  • Gene Dosage / genetics
  • Hedgehog Proteins / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pregnancy

Substances

  • Hedgehog Proteins
  • SHH protein, human