Global ETD Search
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Showing 1 to 1 of 1 for “"rare genetic X-linked disorder"”.
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NOVEL INSIGHTS ON ALLAN-HERNDON-DUDLEY SYNDROME: TRANSCRIPTIONAL PROFILING AND FUNCTIONAL CHARACTERIZATION OF THREE GENETIC VARIANTS IN SLC16A2 GENE
Allan-Herndon-Dudley Syndrome (AHDS) is a rare genetic X-linked pediatric disorder, affecting essentially males, with intellectual and motor development impairment. It is caused by mutations in the SLC16A2 gene, which encodes for MCT8, a transporter responsible for thyroid hormone (TH) transport …