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Keywords: Psychomotor retardation
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Journal Articles
Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
Available to PurchaseAhmet Anık, Simone Kersseboom, Korcan Demir, Gönül Çatlı, Uluç Yiş, Ece Böber, Alies van Mullem, Ramona E.A. van Herebeek, Semra Hız, Ayhan Abacı, Theo J. Visser
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (4): 261–271.
Published Online: 18 September 2014
... are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. Case Report and Results: We describe 4 males with AHDS from two unrelated families...
Journal Articles
Thyroid Hormone Transporters
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2007) 68 (Suppl. 5): 28–30.
Published Online: 10 December 2007
..., including the brain where it is predominantly localized in neurons. The MCT8 gene is located on the X chromosome. Conclusions: Mutations in MCT8 have been identified in boys with severe psychomotor retardation who also have very high serum T 3 levels. Thyroid hormone is crucial for brain development...
