Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
<p style="text-align:justify;"> <b>Background:</b> Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems....
Main Authors: | Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A |
---|---|
Format: | Journal article |
Language: | English |
Published: |
BioMed Central
2014
|
Similar Items
-
Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
by: Sharma, V, et al.
Published: (2012) -
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
by: de Ravel, T, et al.
Published: (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.
by: Goriely, A, et al.
Published: (2010) -
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
by: Thomas, G, et al.
Published: (2005) -
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
by: Van Den Elzen, M, et al.
Published: (2014)