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

Eitemau Tebyg

• Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
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• A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
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• 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.
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  Cyhoeddwyd: (2010)
• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
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• FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
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  Cyhoeddwyd: (2005)