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

• Main Authors: Yuqi Miao (Author), Jiahui Chen (Author), Xiaoya Guo (Author), Yu Wei (Author), Xiaozhi Wu (Author), Yanmei Sang (Author), Di Wu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...