PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

@article{Macchia1998PAX8MA,
  title={PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis},
  author={P. Macchia and P. Lapi and H. Krude and M. T. Pirro and C. Missero and L. Chiovato and A. Souabni and M. Baserga and V. Tassi and A. Pinchera and G. Fenzi and A. Grüters and M. Busslinger and R. Lauro},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={83-86}
}
Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000–4,000 newborns. Except in rare cases due to hypothalamic or pituitary defects, CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. When thyroid hormone therapy is not initiated within the first two months of life, CH can cause severe neurological, mental and motor damage1,2. In 80–85% of cases, CH is associated with and presumably is a… Expand
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
Thyroid defects due to Pax8 gene mutations.
  • G. Damante
  • Biology, Medicine
  • European journal of endocrinology
  • 1998
GENETIC DEFECTS IN THYROID HORMONE SUPPLY Immacolata
Etiology of Congenital Hypothyroidism
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
Congenital hypothyroidism: etiologies, diagnosis, and management.
  • S. Lafranchi
  • Medicine
  • Thyroid : official journal of the American Thyroid Association
  • 1999
Molecular defects in thyroid dysgenesis
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References

SHOWING 1-10 OF 19 REFERENCES
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