A Novel Recurrent 200 kb CRYL1 Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain
This work highlights the importance of comprehensively testing all genomic regions known to be clinically relevant for a given genetic condition, including thorough <i>CRYL1</i> CNV screening for DFNB1A diagnostics.
Authors
- Juan Cadiñanos (ORCID: https://orcid.org/0000-0001-7561-7759)
- Anja Fischer (ORCID: https://orcid.org/0000-0002-7145-2544)
- Beatriz Regina Lima de Aguiar (ORCID: https://orcid.org/0000-0003-0394-0500)
- Esther López Martínez
- Dido Carrero (ORCID: https://orcid.org/0000-0001-7869-838X)
- Adrián Santiago (ORCID: https://orcid.org/0009-0008-7869-1637)
- Raquel Capín (ORCID: https://orcid.org/0000-0001-7812-4861)
- María Costales (ORCID: https://orcid.org/0000-0002-8080-736X)
- Guadalupe Cifuentes (ORCID: https://orcid.org/0000-0002-0042-0051)
- Roland Rad (ORCID: https://orcid.org/0000-0002-6849-9659)
- Alicia Rodríguez‐Huete (ORCID: https://orcid.org/0009-0009-4807-5670)
- Marta Diñeiro (ORCID: https://orcid.org/0000-0002-4910-8675)
- Rubén Cabanillas (ORCID: https://orcid.org/0000-0003-3084-7766)
- Alberto A. R. Vargas
Institutions
- Hospital Universitario Central de Asturias (ES)
- Instituto de Medicina Genómica (ES)
- Technical University of Munich (DE)
Publication Details
- Journal
- Genes
- Published
- 2025-05-30
- DOI
- https://doi.org/10.3390/genes16060670
- Citations
- 3
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 4.39