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Direct linkFuchs, Oliver; Pfarr, Nicole; Pohlenz, Joachim; Schmidt, Heinrich – Developmental Medicine & Child Neurology, 2009
"Monocarboxylate transporter 8" ("MCT8" or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome…
Descriptors: Brain, Mental Retardation, Genetic Disorders, Genetics
