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Craniofacial Anomalies and Neurocognitive Aspects in Fgfrs-Craniosynostoses Mouse Models

  • Anne Morice,
  • Federico Di Rocco,
  • Laurence Legeai-Mallet

摘要

Several mouse models have been generated in the past decade to better understand the physiopathology of genetic mutations associated with syndromic craniosynostoses. The analysis of these animal models not only illustrates the observed morphological changes in craniofacial growth but also allows studying the underlying biological mechanisms. Moreover, recent studies have shown that these mouse models can also be used to understand the impact of genetic variants on cognition. Here, we describe mouse models with Fgfrs-activating mutations generated over the past decades and report on the first study demonstrating the impact of fibroblast growth factor receptors (FGFRs) on neurocognitive aspects.