Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015

Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.178. Epub 2014 Sep 17.
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*
  • Genetic Testing
  • 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
  • Male
  • Polymorphism, Genetic
  • Sensitivity and Specificity

Substances

  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome