Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of...

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Main Authors: Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Format: Artigo
Language:Inglês
Published: Elsevier 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933349/
https://ncbi.nlm.nih.gov/pubmed/20817137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.004
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