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

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

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...

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Bibliographic Details
Main Authors: Ping Zha, Ying Kong, Lili Wang, Yujuan Wang, Qing Qing, Liying Dai
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
Noonan syndrome
RIT1
variant locus
clinical phenotype
hypertrophic cardiomyopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.934808/full

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