Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

Antzeko izenburuak

• FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome
  nork: Yidi Wang, et al.
  Argitaratua: (2022-10-01)
• Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
  nork: Fenwick, A, et al.
  Argitaratua: (2014)
• 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)
• A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
  nork: de Ravel, T, et al.
  Argitaratua: (2005)
• Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis.
  nork: Marucci, D, et al.
  Argitaratua: (2008)