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A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report
BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. CASE PRESENTATION: This study reported a novel splicing mutation in the SLC16...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981932/ https://www.ncbi.nlm.nih.gov/pubmed/35382784 http://dx.doi.org/10.1186/s12887-022-03259-5 |