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Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

Neurodegenerative DiseasesSevere Neurologic FeaturesMendelian DisorderNeurological DisorderMedicineGenetic DisorderInherited Metabolic DiseaseImmunologyPathologyNeurologyAllan–herndon–dudley SyndromeNeuropathologyNeuromuscular Pathology