Partial craniosynostosis in a patient with deletion 22q11

Genet Couns. 2004;15(4):481-3.
No abstract available

Publication types

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

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Craniosynostoses / genetics*
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Point Mutation / genetics
  • Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR1 protein, human
  • FGFR2 protein, human
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptor, Fibroblast Growth Factor, Type 3