Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

Am J Med Genet A. 2018 Feb;176(2):487-491. doi: 10.1002/ajmg.a.38532. Epub 2017 Nov 21.
No abstract available

Publication types

  • Letter

MeSH terms

  • Child, Preschool
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics*
  • Craniosynostoses / physiopathology
  • Craniosynostoses / surgery*
  • Craniotomy*
  • Endoscopy
  • Female
  • Humans
  • Infant
  • Male
  • Nuclear Proteins / genetics
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics
  • Twist-Related Protein 1 / genetics

Substances

  • Nuclear Proteins
  • TWIST1 protein, human
  • Twist-Related Protein 1
  • FGFR1 protein, human
  • FGFR2 protein, human
  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptor, Fibroblast Growth Factor, Type 3