Hormonal data did not show adrenal insufficiency (details are reported in Table 1 ). With respect to the missense mutation, the evaluation of the risk of pathogenicity was thus the result of the following individual tools integration: Table 3. We report the presence of two novel variants on the HSD3B2 gene in the compound heterozygous form that likely caused the 3βHSD2 deficiency with variable expressivity in two siblings, a missense mutation on exon 4 (c.370 A>G) and an intronic mutation on intron 3 (c.308-6 G>A), whose potential pathogenetic effect were evaluated by in-silico analysis and need functional validation. Depo 25 bonus 25 maupun Depo 50 bonus 50 , dan Depo 100 fluminense rj x cr vasco da gama rj bonus 100 adalah situs bermain slot online gacor yang memiliki bonus setara atau yang lebih di kenal dengan bonus new member 100%. 1. Lorence M.C., Murry B.A., Trant J.M., Mason J.I. Human 3 beta-hydroxysteroid dehydrogenase/delta 5—4isomerase from placenta: Expression in nonsteroidogenic cells of a protein that catalyses the dehydrogenation/isomerisation of C21 and C19 steroids.
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