Article
Additional phenotypic features of Muenke syndrome in 2 Dutch families.
The Journal of craniofacial surgery - 1 Mar 2011
de Jong Tim, Mathijssen Irene M J, Hoogeboom A Jeannette M
Abstract excerpt
In about 30% of the patients with syndromal craniosynostosis, a genetic mutation can be traced. For the purpose of adequate genetic counseling and treatment of these patients, the full spectrum of clinical findings for each specific mutation needs to be appreciated. The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in...
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