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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.

Type

Journal article

Journal

Curr Opin Neurol

Publication Date

04/1996

Volume

9

Pages

146 - 152

Keywords

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