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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...

Topics

Noonan Syndrome
Humans
Retrospective Studies
Spain
Male
Female
Infant
Child, Preschool
Adult
Middle Aged
Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Craniofacial Abnormalities

Neurodevelopmental Disorders

Cardiovascular Abnormalities

Cohort Studies

Neoplasms

Hematologic Diseases

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 31 Aug 2026.

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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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