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

摘要

BackgroundWnt 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 cascade, also contribute to genetic oligodontia.