Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.

@article{Malkov2012GeneticAO,
  title={Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.},
  author={Jana Mal{\'i}kov{\'a} and Felix Votava and Zuzana Vrzalov{\'a} and Jan Lebl and Ondřej Cinek},
  journal={Clinical endocrinology},
  year={2012},
  volume={77 2},
  pages={187-94}
}
BACKGROUND Neonatal screening for congenital adrenal hyperplasia (CAH) identifies a certain proportion of newborns with transient moderate elevation of 17-hydroxyprogesterone (17-OHP). These children require regular follow-up until normalization of their 17-OHP levels. We investigated the possibility of reducing the individuals' recall rates by using genetic methods on their original neonatal dried blood spots. PATIENTS AND METHODS We analysed neonatal dried blood spots from 753 subjects with… CONTINUE READING
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