Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Human genetics - 1 Sept 2018
Du Renqian, Dinckan Nuriye, Song Xiaofei, Coban-Akdemir Zeynep, Jhangiani Shalini N, Guven Yeliz, Aktoren Oya, Kayserili Hulya, Petty Lauren E, Muzny Donna M, Below Jennifer E, Boerwinkle Eric, Wu Nan, Gibbs Richard A, Posey Jennifer E, Lupski James R, Letra Ariadne, Uyguner Z Oya
Abstract excerpt
Tooth agenesis (TA), the failure of development of one or more permanent teeth, is a common craniofacial abnormality observed in different world populations. The genetic etiology of TA is heterogeneous; more than a dozen genes have been associated with isolated or nonsyndromic TA, and more than 80 genes with syndromic forms. In this study, we applied whole exome sequencing (WES) to identify candidate genes...
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