MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in <i>SLC16A2</i>
Findings from this case report highlight the need for greater awareness of this disorder and underscore the clinical heterogeneity of MCT8 deficiency.
Authors
- Romina Armando (ORCID: https://orcid.org/0000-0003-2903-9243)
- Andrea Arcari (ORCID: https://orcid.org/0000-0001-7618-1950)
- M. Ayuso (ORCID: https://orcid.org/0009-0005-8032-2847)
- Marina Szlago (ORCID: https://orcid.org/0000-0001-8758-0762)
- María Hortensia Valdez‐de la Torre (ORCID: https://orcid.org/0009-0007-6158-415X)
- María E Rodríguez (ORCID: https://orcid.org/0000-0003-4746-8324)
Institutions
- Hospital General de Niños Ricardo Gutierrez (AR)
Publication Details
- Journal
- Case Reports in Genetics
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crig/5589985
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00