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

OBJECTIVE: Noonan 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 pheno...

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Detalles Bibliográficos
Autores principales: Zha, Ping, Kong, Ying, Wang, Lili, Wang, Yujuan, Qing, Qing, Dai, Liying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490085/
https://www.ncbi.nlm.nih.gov/pubmed/36160792
http://dx.doi.org/10.3389/fped.2022.934808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490085/
https://www.ncbi.nlm.nih.gov/pubmed/36160792
http://dx.doi.org/10.3389/fped.2022.934808

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