Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

BACKGROUND: Wnt and Wnt‐associated pathways play an important role in the genetic etiology of oligodontia, a severe form of tooth agenesis. Loss‐of‐function mutations in LRP6 , encoding a transmembrane cell‐surface protein that functions as a coreceptor in the canonical Wnt/b‐catenin signaling casca...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Ross, Jamila, Fennis, Willem, de Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans‐Kristian, Créton, Marijn, van den Boogaard, Marie‐José
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565550/
https://ncbi.nlm.nih.gov/pubmed/30950205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.679
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