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(TSH increased)
8,151 results
  • [Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome]. [Journal Article]
  • ZYZhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug 10; 35(4):484-488
  • Wang J, Zhang Q, … Yu S
  • CONCLUSIONS: AHDS is characterized by severe psychomotor developmental delay as well as congenital hypotonia, dystonia and positive pyramidal signs. Affected males may present with distinctive thyroid hormone abnormalities including increased FT3 and low FT4 accompanied by normal TSH. Delayed meylination of white matter is common. It is an X-linked mental retardation caused by SLC16A2 gene mutations.
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