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...

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Detalles Bibliográficos
Autores principales: Chen, Xiaodan, Liu, Li, Zeng, Chunhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
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

Internet

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

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