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Thyroid Hormone Transporter Defect: Allan Herndon Dudley Syndrome, Masquerading as Dyskinetic Cerebral Palsy
Allan Herndon Dudley syndrome (AHDS) is a rare X-linked recessive disorder due to mutation in the SLC16A2 gene, which encodes a thyroid hormone (TH) transporter that facilitates the movement of TH across the neurons. Mutation in this gene leads to a lack of T3 and T4 entry in the brain, which causes...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757515/ https://www.ncbi.nlm.nih.gov/pubmed/36531774 http://dx.doi.org/10.4103/jpn.JPN_135_20 |