Molecular genetic defects in congenital hypothyroidism.

  title={Molecular genetic defects in congenital hypothyroidism.},
  author={Annette Grueters and Heiko Krude and Heike Biebermann},
  journal={European journal of endocrinology},
  volume={151 Suppl 3},
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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Choreoathetosis, hypothyroidism and pulmonary problems due to NKX2.1 haploinsufficiency

  • H Krude, B Schutz, H Biebermann, A. Von Moers
  • Journal of Clinical Investigation
  • 2002

Mutations of the TTF-1 are associated with benign hereditary chorea

  • GJ Breedveld, JW van Dongen, H Krude, A Gruters, P. Heutink
  • Human Molecular Genetics
  • 2002

Partial deficiency of TTF-1 produces predominantly neurological defects in men and mice

  • J Pohlenz, A Dumitrecu, +7 authors S. Refetoff
  • Journal of Clinical Investigation
  • 2002

Mutations of the Prop-1 gene cause familial combined pituitary hormone deficiency

  • W Wu, JD Cogan, R Pfäffle, JS Dasen, H Frisch, SM. O’Connell
  • Nature Genetics
  • 2001

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