Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations

Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations

BackgroundThe PTPN11 gene, located at 12q24. 13, encodes protein tyrosine phosphatase 2C. Mutations in the PTPN11 gene can lead to various phenotypes, including Noonan syndrome and LEOPARD syndrome. The SEC24D gene is located at 4q26 and encodes a component of the COPII complex, and is closely relat...

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Bibliographic Details
Main Authors: Yuqi Miao, Jiahui Chen, Xiaoya Guo, Yu Wei, Xiaozhi Wu, Yanmei Sang, Di Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
LEOPARD syndrome
Cole-Carpenter syndrome-2
PTPN11
SEC24D
dual mutations
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.973920/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.973920/full

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