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

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

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 resequencing in a large cohort of TA and OFC patients.

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Veröffentlicht in:Genetics in Medicine 2016-03, Vol.18 (11), p.1158-1162
Hauptverfasser: 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, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, Anna, Devriendt, Koenraad, 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
Format: Artikel
Sprache:eng
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Zusammenfassung: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 resequencing in a large cohort of TA and OFC patients.
ISSN:1098-3600