Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1
We highlight the importance of chromatin remodeling genes in both isolated and syndromic CMI and suggest the potential role of HP1BP3 as a possible modifier gene in CMI pathogenesis, even if this association needs to be further clarified.
Authors
- Domenico Tortora (ORCID: https://orcid.org/0000-0002-5621-4046)
- Marco Di Duca (ORCID: https://orcid.org/0000-0001-8456-7706)
- Patrizia De Marco (ORCID: https://orcid.org/0000-0001-8498-3750)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Valeria Capra (ORCID: https://orcid.org/0000-0002-3097-0388)
- Maria Cerminara (ORCID: https://orcid.org/0000-0002-2011-6479)
- Michele Iacomino (ORCID: https://orcid.org/0000-0003-4788-9719)
- Gianluca Piatelli (ORCID: https://orcid.org/0000-0003-3754-0898)
- Ferruccio Romano (ORCID: https://orcid.org/0009-0005-3933-0597)
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Aldamaria Puliti (ORCID: https://orcid.org/0000-0001-9310-6514)
- Marco Pavanello (ORCID: https://orcid.org/0000-0001-7312-0204)
Institutions
- Istituto Giannina Gaslini (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/bdr2.2446
- Primary Topic
- Spinal Dysraphism and Malformations
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute