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....
Autori principali: | , , , , , , , , , |
---|---|
Natura: | Journal article |
Lingua: | English |
Pubblicazione: |
BioMed Central
2014
|