Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
These results suggest that SNHL may represent a new clinical feature associated with this gene.
Authors
- Purificación Marín Reina (ORCID: https://orcid.org/0000-0003-3780-2077)
- Belén García‐Bohórquez
- Elena Aller (ORCID: https://orcid.org/0000-0001-7973-5250)
- Roberto Llorens‐Salvador (ORCID: https://orcid.org/0000-0002-2451-6699)
- Gema García‐García (ORCID: https://orcid.org/0000-0002-2113-0600)
- M Armengot
- Pilar Barberán-Martínez (ORCID: https://orcid.org/0000-0002-3604-7068)
- José M. Millán (ORCID: https://orcid.org/0000-0002-7211-9129)
- Inmaculada Concepción Almor-Palacios
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-05-03
- DOI
- https://doi.org/10.1186/s40246-025-00759-0
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Generalitat Valenciana
- Horizon 2020 Framework Programme
- Instituto de Salud Carlos III