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Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl

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Authors and Affiliations

  1. Department of Pediatrics, University of Messina, Palermo, Italy

    L. Di Pasquale, M. Wasniewska, S. Mirabelli, I. Rulli, G. Salzano & F. De Luca

  2. Endocrinology Unit, Villa Sofia Hospital, Palermo, Italy

    S. Indovina & P. Porcelli

Authors
  1. L. Di Pasquale
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  2. S. Indovina
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  3. M. Wasniewska
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  4. S. Mirabelli
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  5. P. Porcelli
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  6. I. Rulli
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  7. G. Salzano
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  8. F. De Luca
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Di Pasquale, L., Indovina, S., Wasniewska, M. et al. Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl. J Endocrinol Invest 30, 806–807 (2007). https://doi.org/10.1007/BF03350823

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  • DOI: https://doi.org/10.1007/BF03350823

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