Craniosynostosis Genetics
Report summarizes craniosynostosis genetics study findings from University of Oxford, Weatherall Institute of Molecular Medicine
Published in Hospital Law Weekly, September 6th, 2007
Investigators publish new data in the report "Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 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," scientists in Oxford, the United Kingdom report.
"Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental...
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Source: Hospital Law Weekly (2007-09-06)
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