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

**Authors:** Luca Dalle Carbonare, Arianna Minoia, Alberto Gandini, Francesca Cristiana Piritore, Cristina Patuzzo, Lucrezia Ceretti, Anna Vareschi, Antonino Aparo, Mattia Cominacini, Giovanni Malerba, Maria Grazia Romanelli, Joao Pessoa, Daniele Guardavaccaro, Franco Antoniazzi, Maria Teresa Valenti

PMC · DOI: 10.1016/j.gendis.2024.101449 · 2024-11-06

## Full-text entities

- **Genes:** RUNX2 (RUNX family transcription factor 2) [NCBI Gene 860] {aka AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD}
- **Diseases:** cleidocranial dysplasia (MESH:D002973)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11960636/full.md

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Source: https://tomesphere.com/paper/PMC11960636