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Rapid Communication | Open Access

Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis

Luca Dalle Carbonarea, Arianna Minoiaa, Alberto Gandinib, Francesca Cristiana Piritorec, Cristina Patuzzoc, Lucrezia Cerettib, Anna Vareschia, Antonino Aparod, Mattia Cominacinia, Giovanni Malerbac, Maria Grazia Romanellic, Joao Pessoae, Daniele Guardavaccarof, Franco Antoniazzib, Maria Teresa Valentic( )
Department of Engineering for the Innovation Medicine, University of Verona, Verona 37100, Italy
Department of Surgery, Dentistry, Pediatrics and Gynecology, University of Verona, Verona 37100, Italy
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona 37100, Italy
Research Center LURM (Interdepartmental Laboratory of Medical Research), University of Verona, Verona 37100, Italy
Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro 3810-193, Portugal
Department of Biotechnology, University of Verona, Verona 37134, Italy

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA)

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Genes & Diseases
Volume 12 Issue 4,
July 2025
Article number: 101449
DOI: 10.1016/j.gendis.2024.101449

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Cite this article:
Dalle Carbonare L, Minoia A, Gandini A, et al. Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis. Genes & Diseases, 2025, 12(4): 101449. https://doi.org/10.1016/j.gendis.2024.101449

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Received: 25 June 2024
Published: 06 November 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).