Article
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
American journal of human genetics - 1 Oct 2015
Massink Maarten P G, Créton Marijn A, Spanevello Francesca, Fennis Willem M M, Cune Marco S, Savelberg Sanne M C, Nijman Isaäc J, Maurice Madelon M, van den Boogaard Marie-José H, van Haaften Gijs
Abstract excerpt
Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia. In three of the probands, we detected heterozygous...
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