Browsing by Author "3c2042ae-d065-42e2-975d-bfb6c28e8f7c"

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    • Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation 
      Friesema, Edith C H; Grueters, Prof Annette; Biebermann, Heike; Krude, Heiko; Von Moers, Arpad; Reeser, Maarten; Barrett, Timothy G.; Mancilla, Edna E.; Svensson, Johan; Kester, Monique H A; Kuiper, George G J M; Balkassmi, Sahila; Uitterlinden, André G.; Koehrle, Pro (2004)
      Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine ...