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

• Main Authors: Ping Zha (Author), Ying Kong (Author), Lili Wang (Author), Yujuan Wang (Author), Qing Qing (Author), Liying Dai (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...