Prevalence and complications of single gene and chromosomal disorders in craniosynostosis

OBJECTIVE: We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine understanding of prognosis and pathogenesis, and to provide rational criteria for clinical genetic testing. METHODS: We undertook targeted molecular genetic and cytogenet...

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Hoofdauteurs: Wilkie, Andrew O.M., Byren, Jo C., Hurst, Jane A., Jayamohan, Jayaratnam, Johnson, David, Knight, Samantha J. L., Lester, Tracy, Richards, Peter G., Twigg, Stephen R. F., Wall, Steven A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2010
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3535761/
https://ncbi.nlm.nih.gov/pubmed/20643727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2009-3491
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