Deletions and loss-of-function variants in TP63 associated with orofacial clefting

We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls u...

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Udgivet i:Eur J Hum Genet
Main Authors: Khandelwal, Kriti D., van den Boogaard, Marie-José H., Mehrem, Sarah L., Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A. L. M., Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C., Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U., Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E. L., van Bokhoven, Hans
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777535/
https://ncbi.nlm.nih.gov/pubmed/30850703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0370-0
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