Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

European Journal of Human Genetics 2026 Open access

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Authors: Andrea Gazzin, Marta Calvo, Federico Rondot, G.J. Reynolds, Chiara Leoni, Marcello Niceta, Maria Lisa Dentici, Maria Cristina Digilio, Francesca Romana Lepri, Emanuele Monda, Ilaria Carelli, Eva Trevisson
+22 more Iris Scala, Giorgia Mancano, Elena Andreucci, Franco Stanzial, Francesco Brancati, Giuseppe Zampino, Luigi Tarani, Roberto Paparella, Diana Carli, A. Moreno Villar, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Paola Daniele, Elena Airulo, Chiara Riggi, Giulio Calcagni, G. B. Ferrero, G Limongelli, Alessandro De Luca, Marco Tartaglia, Alessandro Mussa
DOI: 10.1038/s41431-025-02002-9
Cited by: 2
References: 44

Fields of Study & Subjects

Protein Tyrosine Phosphatases Autophagy in Disease and Therapy Endoplasmic Reticulum Stress and Disease

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
2
Pages
209–215
Publication date
8 January 2026
Language
EN