Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

Am J Med Genet A. 2009 Mar;149A(3):539-42. doi: 10.1002/ajmg.a.32682.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anophthalmos / genetics*
  • Diaphragmatic Eventration / genetics*
  • Diseases in Twins / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Mutation*
  • Pregnancy

Substances

  • Membrane Proteins
  • STRA6 protein, human