Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome

Am J Med Genet A. 2009 Aug;149A(8):1814-7. doi: 10.1002/ajmg.a.32947.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Face
  • Gene Deletion*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Syndrome

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2