Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations

Am J Med Genet A. 2006 Jun 15;140(12):1331-2. doi: 10.1002/ajmg.a.31253.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Amino Acid Substitution*
  • Child Behavior Disorders / genetics*
  • Child, Preschool
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Leucine / metabolism
  • Male
  • Protein Structure, Tertiary
  • Syndrome

Substances

  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors
  • Leucine