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The identification in craniosynostosis syndromes of mutations in genes belonging to the fibroblast growth factor signalling pathway and the transcriptional regulator MSX2 provides important clues to the pathogenesis of these disorders. Although surgery continues to be the mainstay of treatment, new animal models and improved uncerstanding of cranial suture biology and pathology may lead to complementary therapies.


Journal article


Curr Opin Neurol

Publication Date





146 - 152


Acrocephalosyndactylia, Craniosynostoses, Humans, Mutation, Receptors, Nerve Growth Factor