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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Bibliografski detalji
Izdano u:Am J Med Genet A
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2018
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Article
Online pristup: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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