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Article

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

PloS one - 1 Jan 2015

Armour Christine M, Kersseboom Simone, Yoon Grace, Visser Theo J

Abstract excerpt

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, and its functional characterization. METHODS: Proband and family members were screened for 60 genes involved in...

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PMID: 26426690
DOI: 10.1371/journal.pone.0139343
PMCID: PMC4591285

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