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Allan-Herndon-Dudley Syndrome: A Novel Pathogenic Variant of the SLC16A2 gene
Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure to thrive in the setting of thyroid irregularities...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8890594/ https://www.ncbi.nlm.nih.gov/pubmed/35251841 http://dx.doi.org/10.7759/cureus.21771 |