Molecular genetic defects in congenital hypothyroidism.

@article{Grueters2004MolecularGD,
  title={Molecular genetic defects in congenital hypothyroidism.},
  author={Annette Grueters and Heiko Krude and Heike Biebermann},
  journal={European journal of endocrinology},
  year={2004},
  volume={151 Suppl 3},
  pages={U39-44}
}
Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subsequently be explained by molecular defects of transcription factors (FOXE-1/FKHL15, NKX2.1) which are… CONTINUE READING

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