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Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity
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Mutation in 3β-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females
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Molecular basis of congenital adrenal hyperplasia in two sibs with classical nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency
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New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: Identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes
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Moisan A.M., Ricketts M.L., Tardy V., Desrochers M., Mebarki F., Chaussain J.L., Cabrol S., Raux-Demay M.C., Forest M.G., Sippell W.G., Peter M., Morel Y., Simard J. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes . J Clin Endocrinol Metab. 84:(12):1999;4410-4425.
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Mutations in the type II 3β-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls
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