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Variability in dentofacial phenotypes in four families with WNT10A mutations

This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onych...

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Dettagli Bibliografici
Autori principali: Vink, Christian P, Ockeloen, Charlotte W, ten Kate, Sietske, Koolen, David A, Ploos van Amstel, Johannes Kristian, Kuijpers-Jagtman, Anne-Marie, van Heumen, Celeste C, Kleefstra, Tjitske, Carels, Carine E L
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135412/
https://ncbi.nlm.nih.gov/pubmed/24398796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.300
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