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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Bibliografiska uppgifter
I publikationen:Genet Med
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
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Article
Länkar: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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