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Article

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

American journal of medical genetics. Part A - 1 Mar 2025

Barbero Ana Isabel Sánchez, Valenzuela Irene, Fernández-Alvarez Paula, Vazquez Élida, Cueto-Gonzalez Anna Maria, Lasa-Aranzasti Amaia, Trujillano Laura, Masotto Bárbara, Arumí Elena García, Tizzano Eduardo F

Abstract excerpt

Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies...

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

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Source

Identifiers

PMID: 39484914
DOI: 10.1002/ajmg.a.63905

Genes

SOS1
LZTR1
PTPN11
RAF1
RIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

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Research trail→

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New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.PMID 39484914Read ↗

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Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read ↗

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathwaySemantic proximity Read ↗

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read ↗

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.Semantic proximity Read ↗

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.Semantic proximity Read ↗

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