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See Latest ArticlesCongenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency - Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)
Hormone Research, 10/27/09
Krone N et al. – Results indicate that both novel mutations are disease–causing mutations. Proving the pathogenic effect of a missense sequence variation is of particular importance for clinical genetic counseling as this provides essential information on the prediction of recurrence risk and disease severity.
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