Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?

Am J Med Genet. 1997 Aug 8;71(2):243-5.
No abstract available

Publication types

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

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Brazil
  • Child
  • Exons
  • Female
  • Humans
  • Infant
  • Mutation
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Fibroblast Growth Factor / genetics*
  • Sequence Analysis, DNA

Substances

  • Receptors, Fibroblast Growth Factor