Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

BACKGROUND: Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of one family,...

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Detalles Bibliográficos
Autores principales: Armour, Christine M., Kersseboom, Simone, Yoon, Grace, Visser, Theo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591285/
https://www.ncbi.nlm.nih.gov/pubmed/26426690
http://dx.doi.org/10.1371/journal.pone.0139343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591285/
https://www.ncbi.nlm.nih.gov/pubmed/26426690
http://dx.doi.org/10.1371/journal.pone.0139343

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