Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism
We report novel compound heterozygous missense <i>SLC5A5</i> gene variants causing defective iodide accumulation, thus leading to congenital dyshormonogenic hypothyroidism.
Authors
- Patricia Papendieck
- Mariano Martín (ORCID: https://orcid.org/0000-0002-9518-2630)
- Mariana L. Tellechea (ORCID: https://orcid.org/0000-0002-1194-8433)
- Romina C. Geysels
- Gerardo Hernán Carro (ORCID: https://orcid.org/0000-0002-9221-9573)
- Francisco Montes (ORCID: https://orcid.org/0000-0002-1708-9385)
- Juan P. Nicola (ORCID: https://orcid.org/0000-0001-6974-5797)
- Ana Chiesa (ORCID: https://orcid.org/0000-0003-3123-4523)
- Victoria Peyret (ORCID: https://orcid.org/0000-0001-5432-720X)
- Carlos Eduardo Bernal Barquero (ORCID: https://orcid.org/0000-0001-7166-2210)
- María Eugenia Masnata
- Verena Ricci
- Ana M. Masini‐Repiso
- Sofía Savy
Institutions
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Universidad Nacional de Córdoba (AR)
- Research Centre in Biological Chemistry of Córdoba (AR)
- Hospital General de Niños Ricardo Gutierrez (AR)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-12-19
- DOI
- https://doi.org/10.3389/fendo.2024.1465176
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Vanderbilt University
- Vrije Universiteit Brussel
- School of Medicine, Vanderbilt University
- Agencia Nacional de Promoción Científica y Tecnológica