Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
This report provides new clinical and genetic insights into the landscape of SAS. Our findings confirm the phenotypic heterogeneity of SAS and highlight the critical role of comprehensive genetic testing for accurate diagnosis in NDD patients.
Authors
- Elena Shukarova-Angelovska
- Giovanni Battista Ferrero (ORCID: https://orcid.org/0000-0002-3793-5788)
- Elisa Biamino
- Slavica Trajkova (ORCID: https://orcid.org/0000-0002-0178-5327)
- Verdiana Pullano (ORCID: https://orcid.org/0000-0002-0409-9832)
- Fabio Sirchia (ORCID: https://orcid.org/0000-0002-4598-2023)
- Alfredo Brusco (ORCID: https://orcid.org/0000-0002-8318-7231)
- Diana Carli (ORCID: https://orcid.org/0000-0001-5690-6504)
- Alessandro Mussa (ORCID: https://orcid.org/0000-0003-2795-6013)
- Simona Cardaropoli (ORCID: https://orcid.org/0000-0002-8927-8900)
- Silvia Carestiato (ORCID: https://orcid.org/0000-0001-9475-6586)
- Roberto Keller (ORCID: https://orcid.org/0000-0002-6873-9827)
- G.J. Reynolds (ORCID: https://orcid.org/0000-0003-0447-2112)
- Federico Rondot (ORCID: https://orcid.org/0000-0002-3162-9771)
- Ilaria Carelli
Institutions
- University of Pavia (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- University Clinic of Traumatology (AT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Turin (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-10-17
- DOI
- https://doi.org/10.3390/genes16101229
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00