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Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

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...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596913/
https://ncbi.nlm.nih.gov/pubmed/26387593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.08.014
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