A novel homozygous missense <i>DNAJC3</i> variant in syndromic juvenile-onset diabetes
This case supports the wide phenotypic spectrum and multisystem involvement potential of <i>DNAJC3</i> variants and demonstrates the need to increase awareness in the diagnostic process of these rare genetic disorders..
Authors
- Eda Mengen (ORCID: https://orcid.org/0000-0003-1597-8418)
- Deniz Kör (ORCID: https://orcid.org/0000-0001-7659-0500)
- Leman Damla Kotan (ORCID: https://orcid.org/0000-0001-6176-8986)
- Neslihan Önenli Mungan (ORCID: https://orcid.org/0000-0001-7862-3038)
- Fatma Derya Bulut (ORCID: https://orcid.org/0000-0003-0529-2404)
- İhsan Turan (ORCID: https://orcid.org/0000-0002-5654-247X)
- Bilgin Yüksel (ORCID: https://orcid.org/0000-0002-9753-381X)
Institutions
- Cukurova University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1515/jpem-2025-0072
- Citations
- 1
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 1.15