Allan-Herndon-Dudley syndrome is a disorder with mental retardation and muscular atrophy that is caused by a triiodothyronine resistance (T3 resistance). It is the result of mutations in the SLC16A2 gene. Inheritance is x-linked dominant.
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Frints SG et al. (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. |
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Maranduba CM et al. (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. |
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Orphanet article Orphanet ID 59 |
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OMIM.ORG article Omim 300523 |
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Wikipedia article Wikipedia EN (Allan–Herndon–Dudley_syndrome) |