Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

PURPOSE: Here we aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole exome sequencing (WES) and targeted re-sequencing in a large cohort of TA and OFC patients. METHODS: WES was performed in two unrelated patients, one with severe TA and...

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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, RoaFuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Poorten, Vincent Vander, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5018235/
https://ncbi.nlm.nih.gov/pubmed/26963285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.10
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