Article
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
American journal of medical genetics. Part A - 1 Apr 2018
Dinckan Nuriye, Du Renqian, Akdemir Zeynep C, Bayram Yavuz, Jhangiani Shalini N, 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 O, Letra Ariadne
Abstract excerpt
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 craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.