New information, recommendations for Potocki-Shaffer syndrome

Am J Med Genet A. 2010 Mar;152A(3):fmx. doi: 10.1002/ajmg.a.33289.
No abstract available

Publication types

  • Introductory Journal Article

MeSH terms

  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / physiopathology
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / therapy
  • Humans
  • Microphthalmos / genetics
  • Syndrome

Substances

  • FOXE3 protein, human
  • Forkhead Transcription Factors