Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

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 g...

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Pubblicato in:Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6165673/
https://ncbi.nlm.nih.gov/pubmed/30046887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1907-y
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