Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.

@article{Boccone2010AllanHerndonDudleyS,
  title={Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.},
  author={L Fraddosio Boccone and Stefano Mariotti and Valentina Dess{\`i} and Dario Pruna and Antonella Meloni and Georgios Loudianos},
  journal={European journal of medical genetics},
  year={2010},
  volume={53 6},
  pages={392-5}
}
Thyroid hormones are known to be essential for growth, development and metabolism. Recently mutations in the SLC16A2 gene coding for the monocarboxylate thyroid hormone transporter 8, MCT8, have been associated with Allan-Herndon-Dudley syndrome (AHDS), an X-linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia. Here we describe in detail the clinical and biochemical features in a boy affected by AHDS with severe… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 11 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 31 references

J

  • W. E. Visser, J. Jansen, E. C. Friesema, M. H. Kester, E. Mancilla
  • Lundgren, M.S. Van der Knaap, R.J. Lunsing, O.F…
  • 2009

V

  • S.G.M. Frints, S. Lenzner, M. Bauters, L. R. Jensen, H. Van Esch
  • des Portes, M.V.E. Macville, K. van Roozendaal, C…
  • 2008
1 Excerpt

Similar Papers

Loading similar papers…