Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature
We suggest that clinical severity in cases with 12p deletions varies depending on the cytobands involved, being more moderate when they occur at 12p11-where the gene <i>DENND5B</i> (12p11.23) has recently been associated with a dominant neurodevelopmental disorder-than at 12p12.
Authors
- Stefano Pagano (ORCID: https://orcid.org/0000-0002-7256-090X)
- Flavia Privitera (ORCID: https://orcid.org/0000-0002-0316-4903)
- Lorenzo Cipriano (ORCID: https://orcid.org/0000-0002-5651-4970)
- Annarita Milone (ORCID: https://orcid.org/0000-0003-3170-1187)
- Giulia Nutile (ORCID: https://orcid.org/0009-0009-9618-4126)
- Filippo Maria Santorelli
Institutions
- Fondazione Stella Maris (IT)
Publication Details
- Journal
- Genes
- Published
- 2026-01-19
- DOI
- https://doi.org/10.3390/genes17010104
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00