Noonan syndrome caused by RIT1 gene mutation: A case report and literature review

• Autors principals: Ping Zha (Autor), Ying Kong (Autor), Lili Wang (Autor), Yujuan Wang (Autor), Qing Qing (Autor), Liying Dai (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

ObjectiveNoonan syndrome (NS), an autosomal dominant disease known as a RASopathy, is caused by germline mutations in mitogen-activated protein kinase pathway genes. A RIT1 gene mutation has been found to cause NS. The present study summarizes RIT1 gene mutation sites and associated clinical phenoty...