Article
Genetic basis of potential therapeutic strategies for craniosynostosis.
American journal of medical genetics. Part A - 1 Dec 2010
Melville Heather, Wang Yingli, Taub Peter J, Jabs Ethylin Wang
Abstract excerpt
Craniosynostosis, the premature fusion of one or more cranial sutures, is a common malformation of the skull that can result in facial deformity and increased intracranial pressure. Syndromic craniosynostosis is present in ∼15% of craniosynostosis patients and often is clinically diagnosed by neurocranial phenotype as well as various other skeletal abnormalities. The most common genetic mutations identified in...
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