Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Our findings indicate that a combined approach of genotypic and, mainly, phenotypic reanalysis is an effective strategy for improving the accuracy of molecular diagnosis in individuals with suspected monogenic diabetes.
Authors
- Lucas Santos de Santana (ORCID: https://orcid.org/0000-0003-0428-2386)
- A. Santomauro (ORCID: https://orcid.org/0000-0002-8467-7195)
- Aline Dantas Costa‐Riquetto (ORCID: https://orcid.org/0000-0002-9799-6662)
- Alexander A.L. Jorge (ORCID: https://orcid.org/0000-0003-2567-7360)
- Pedro Campos Franco (ORCID: https://orcid.org/0000-0003-4919-9869)
- Milena Gurgel Teles (ORCID: https://orcid.org/0000-0002-0303-5335)
- Larissa Garcia Gomes (ORCID: https://orcid.org/0000-0002-0902-0142)
Institutions
- Universidade Federal do Ceará (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Communications Medicine
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1038/s43856-025-01031-1
- Primary Topic
- Diabetes and associated disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo