A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis

Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common crani...

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Publicado en:Am J Med Genet A
Main Authors: Dinckan, Nuriye, Du, Renqian, Akdemir, Zeynep Coban, Bayram, Yavuz, Jhiangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Boerwinkle, Eric, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Uyguner, Zehra Oya, Letra, Ariadne
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5933053/
https://ncbi.nlm.nih.gov/pubmed/29436111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38625
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