Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.

@article{Skordis2011MolecularDO,
  title={Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.},
  author={Nicos Skordis and Andreas Kyriakou and Veronique T V Tardy and Yiannis S Ioannou and Athanasia Varvaresou and Maria Dracopoulou-Vabouli and Philippos C. Patsalis and Christos Shammas and Vassos Neocleous and Leonidas A. Phylactou},
  journal={Hormone research in paediatrics},
  year={2011},
  volume={75 3},
  pages={180-6}
}
BACKGROUND/AIM To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. SUBJECTS AND METHODS Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the CYP21A2 gene in 32 CAH patients. RESULTS The most frequent genetic defect in the classic salt-wasting and simple virilizing forms was the IVS2-13A/C>G (55%) mutation, followed… CONTINUE READING
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