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

BACKGROUND: The 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 rel...

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Detalles Bibliográficos
Autores principales: Miao, Yuqi, Chen, Jiahui, Guo, Xiaoya, Wei, Yu, Wu, Xiaozhi, Sang, Yanmei, Wu, Di
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/PMC9524269/
https://www.ncbi.nlm.nih.gov/pubmed/36186652
http://dx.doi.org/10.3389/fped.2022.973920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524269/
https://www.ncbi.nlm.nih.gov/pubmed/36186652
http://dx.doi.org/10.3389/fped.2022.973920

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