Associated Papers
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.
Azzolini S et al.
Brain & Development, 2014
Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.
Anık A et al.
Hormone Research in Paediatrics, 2014
Genetics and phenomics of thyroid hormone transport by MCT8.
Friesema EC et al.
Molecular and Cellular Endocrinology, 2010
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.
Boccone L et al.
European Journal of Medical Genetics, 0
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