Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and h...

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Bibliografische gegevens
Gepubliceerd in:PLoS Genet
Hoofdauteurs: Peled, Alon, Sarig, Ofer, Samuelov, Liat, Bertolini, Marta, Ziv, Limor, Weissglas-Volkov, Daphna, Eskin-Schwartz, Marina, Adase, Christopher A., Malchin, Natalia, Bochner, Ron, Fainberg, Gilad, Goldberg, Ilan, Sugawara, Koji, Baniel, Avital, Tsuruta, Daisuke, Luxenburg, Chen, Adir, Noam, Duverger, Olivier, Morasso, Maria, Shalev, Stavit, Gallo, Richard L., Shomron, Noam, Paus, Ralf, Sprecher, Eli
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2016
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065119/
https://ncbi.nlm.nih.gov/pubmed/27736875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006369
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