Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

  title={Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia},
  author={Tiina Robins and Christine Bellann{\'e}-Chantelot and Michela Barbaro and Sylvie Cabrol and Anna Wedell and Svetlana Lajic},
  journal={Journal of Molecular Medicine},
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common inherited disorder of steroid metabolism, with an incidence of 1/10,000 in the general Caucasian population. Although most patients carry a deletion of the CYP21 gene or any of nine pseudogene-derived point mutations, the number of reported rare mutations continues to increase, and consist today of more than 80 different point mutations. In this study, we report the characterization of four additional missense… CONTINUE READING


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