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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...

Topics

Humans
Noonan Syndrome
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Female
Male
Mexico
Child
Child, Preschool
Adolescent
Adult
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39596579
DOI: 10.3390/genes15111379
PMCID: PMC11593480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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