Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation

Indian J Pediatr. 2020 Jun;87(6):469-470. doi: 10.1007/s12098-019-03140-x. Epub 2019 Dec 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acrocephalosyndactylia* / diagnosis
  • Acrocephalosyndactylia* / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Polydactyly* / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Thumb

Substances

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