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Article

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.

Genes - 25 Oct 2024

Zepeda-Olmos Paola Montserrat, Esparza-García Eduardo, Robles-Espinoza Kiabeth, González-García Juan Ramón, Rodríguez Gutiérrez Perla Graciela, Magaña-Torres María Teresa

Abstract excerpt

Background/Objectives: Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with PTPN11 accounting for about 50% of cases. This study aimed to identify PTPN11 pathogenic variants in Mexican patients with NS to enhance our understanding of the disease...

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Identifiers

PMID: 39596579
DOI: 10.3390/genes15111379
PMCID: PMC11593480

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