Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.

@article{Wedell1998MolecularGO,
  title={Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.},
  author={Anna Wedell},
  journal={Acta paediatrica},
  year={1998},
  volume={87 2},
  pages={159-64}
}
The molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency are reviewed. In Sweden, mutation detection based on allele-specific PCR has been used for genetic diagnosis of this disease since 1993. Around 400 affected 21-hydroxylase genes have been analysed so far. An update of the spectrum of mutations among the Swedish patients shows that nine common pseudogene-derived mutations are responsible for the disease in around 95% of alleles. A total of 13 rare, mostly… CONTINUE READING
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