Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study / Chloe Alexa MCGHEE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) Titre : Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study Type de document : texte imprimé Auteurs : Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : 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 characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study [texte imprimé] / Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 16 (2025) Index. décimale : PER Périodiques Résumé : 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 characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

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