Article
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
American journal of medical genetics. Part A - 1 Dec 2006
Wilkie Andrew O M, Bochukova Elena G, Hansen Ruth M S, Taylor Indira B, Rannan-Eliya Sahan V, Byren Jo C, Wall Steven A, Ramos Lina, Venâncio Margarida, Hurst Jane A, O'Rourke Anthony W, Williams Louise J, Seller Anneke, Lester Tracy
Abstract excerpt
A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled...
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