Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia)

Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.108. Epub 2011 Jun 8.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Face / abnormalities
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics*
  • Genitalia, Male / abnormalities
  • Guanine Nucleotide Exchange Factors / genetics
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Mutation

Substances

  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome