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Article

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Molecular autism - 11 Oct 2025

McGhee Chloe Alexa, Plank Julia R, Pannone Luca, Russo Odeya, Fuhrmann Naomi, Ruggeri Aurora, Radio Francesca Clementina, Martinelli Simone, Tartaglia Marco, Green Tamar

Abstract excerpt

BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41074228
DOI: 10.1186/s13229-025-00681-1
PMCID: PMC12514806

Genes

PTPN11
RAF1
SOS1
KRAS
LZTR1
NRAS
RIT1
SOS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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