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Published in 2018 at "Journal of Child Neurology"
DOI: 10.1177/0883073818770597
Abstract: Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 (MCT8), which leads to deficient thyroid hormone transport. Typical features include severe cognitive impairment, truncal hypotonia, spastic paraplegia, weakness, and…
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Keywords:
dudley syndrome;
allan herndon;
patients allan;
herndon dudley ... See more keywords