Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations

Am J Med Genet. 2002 Nov 15;113(1):1-3. doi: 10.1002/ajmg.10748.
No abstract available

Publication types

  • Comment
  • Review

MeSH terms

  • Acanthosis Nigricans / genetics*
  • Amino Acid Substitution
  • Craniosynostoses / classification*
  • Craniosynostoses / genetics*
  • Cysteine*
  • Humans
  • Phenotype
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Tryptophan*

Substances

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