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Article

Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort

Journal of clinical research in pediatric endocrinology - 8 Sept 2026

Martínez Rueda Silvia C, del Pilar Montilla Maria, Baquero Carolina, Gómez Susana, Lopera Maria Victoria, Zuluaga Nora Alejandra, Forero Adriana Carolina, Giraldo Gustavo, Pineda Trujillo Nicolás, Martínez Juan Camilo, Durán Ventura Paola, Alfaro Juan Manuel

Abstract excerpt

Objective: Describe the clinical manifestations and genetic variants of Noonan syndrome (NS) in a Colombian pediatric population and to identify the genes most frequently associated with specific phenotypic features. Methods: A retrospective observational study was conducted on patients under 18 years of age diagnosed with NS between 2013 and 2023. Clinical and molecular data were collected from medical records...

Read the complete abstract on PubMed

Topics

Humans
Noonan Syndrome
Female
Child
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Colombia

Retrospective Studies

Child, Preschool

Phenotype

Protein Tyrosine Phosphatase, Non-Receptor Type 11

Adolescent

Mutation

Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 41988663
DOI: 10.4274/jcrpe.galenos.2026.2025-10-7
PMCID: PMC13554945

Genes

PTPN11
BRAF
CBL
KRAS
LZTR1
MAP2K1
NF1
NRAS
PPP1CB
RAF1
SOS1
SOS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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