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 |
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| creator | 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 |
| description | 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. |
| format | Article |
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| identifier | ISSN: 1098-3600 |
| ispartof | Genetics in Medicine, 2016-03, Vol.18 (11), p.1158-1162 |
| issn | 1098-3600 |
| language | eng |
| recordid | cdi_kuleuven_dspace_123456789_662824 |
| source | Lirias (KU Leuven Association); EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| title | Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis |
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