RASopathies Latest Advances

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: January 18, 2026

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Journal: Cureus

Published: January 11, 2026

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Journal: Cardiology in the young

Published: January 02, 2026

Diagnostic Value of Karyotype, Microarray, RASopathy Gene Testing and Ultrasound in Fetuses with Nuchal Translucency 3.0-3.4 mm: A Single-Center Cohort Retrospective Study.

Journal: Genes

Published: December 26, 2025

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Journal: bioRxiv : the preprint server for biology

Published: December 25, 2025

RASopathies Latest Advances

Find the Latest Research About RASopathies

Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome.

Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome.

MEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.

MEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.

The 9th International RASopathies Symposium.

The 9th International RASopathies Symposium.

Blunt Trauma-Induced Chylothorax in Noonan Syndrome: A Rare Clinical Presentation.

Blunt Trauma-Induced Chylothorax in Noonan Syndrome: A Rare Clinical Presentation.

A Phase II Basket Trial of Vosoritide in Children with RASopathies, ACAN and NPR2 Deficiency.

A Phase II Basket Trial of Vosoritide in Children with RASopathies, ACAN and NPR2 Deficiency.

PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants.

PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants.

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.

Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Diagnostic Value of Karyotype, Microarray, RASopathy Gene Testing and Ultrasound in Fetuses with Nuchal Translucency 3.0-3.4 mm: A Single-Center Cohort Retrospective Study.

Diagnostic Value of Karyotype, Microarray, RASopathy Gene Testing and Ultrasound in Fetuses with Nuchal Translucency 3.0-3.4 mm: A Single-Center Cohort Retrospective Study.

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.