Article
The molecular pathology of syndromic craniosynostosis.
Molecular medicine today - 1 Dec 1995
Reardon W, Winter R M
Abstract excerpt
Several monogenic disorders result in craniosynostosis, the premature fusion of skull sutures in the neonate, causing craniofacial malformation and, occasionally, neurological compromise. These malformations were initially classified on a clinical basis, but several recent reports have clarified the underlying mutations in many of these syndromes, allowing the complexity of the relationship between mutation and...
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