Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome

Antzeko izenburuak

• Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
  nork: Sharma, V, et al.
  Argitaratua: (2012)
• A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
  nork: de Ravel, T, et al.
  Argitaratua: (2005)
• Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
  nork: Goriely, A, et al.
  Argitaratua: (2010)
• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
  nork: Van Den Elzen, M, et al.
  Argitaratua: (2014)
• FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
  nork: Thomas, G, et al.
  Argitaratua: (2005)