Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene

Clin Genet. 2000 Jul;58(1):81-3. doi: 10.1034/j.1399-0004.2000.580116.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Amino Acid Sequence
  • DNA Mutational Analysis
  • Humans
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Sequence Deletion

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2