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...

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Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju Kammasandra, Gupta, Priya, Shivappa, Sanjay K, Benakappa, Naveen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Reports
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

Internet

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

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