Comprehensive genetic testing of cyp21a2: a retrospective analysis in patients with suspected congenital adrenal hyperplasia

HIGHLIGHTS

  • who: Madalina Nicoleta Nan et al. from the Universitat Vic-Universitat Central Catalunya, Vic, Spain have published the article: Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia, in the Journal: (JOURNAL) of 15/01/2021
  • what: This study resulted from an unprogrammed clinical practice setting and therefore several limitations exist, mainly because of the retrospective manner in which it was conducted.

SUMMARY

    Of the patients with a confirmatory genetic result, 29 (78.4%) were diagnosed with NC CAH and 7 (18.9%) with CL . . .

     

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