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Inherited 3β-hydroxysteroid dehydrogenase deficiency disorder
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Azziz R, Nestler JE, Dewailly D, editors. Philadelphia: Lippincott-Raven
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Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency. L A cause of hirsutism in pubertal and postpubertal women
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Nonclassical 3β-hydroxysteroid dehydrogenase deficiency: A review of our experience with 25 female patients
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7. Moran C, Tena G, Herrera J, Bermudez JA, Zarate A. Heterogeneity of late-onset adrenal 3β-ol-hydroxysteroid dehydrogenase deficiency in patients with hirsutism and polycystic ovaries. Arch Med Res 1994;25:315-20.
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Detection and functional characterization of the novel missense mutation Y254D in type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene of female patient with nonsalt-losing 3βHSD deficiency
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8. Sanchez R, Rheaume E, Laflamme N, Rosenfield RL, Labrie F, Simard J. Detection and functional characterization of the novel missense mutation Y254D in type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene of female patient with nonsalt-losing 3βHSD deficiency. J Clin Endocrinol Metab 1994;78:561-7.
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Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-hydroxysteroid dehydrogenase) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity
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10. Pang S. The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder. Trends Eudocrinol Metab 1998;9:82-6.
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No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3βHSD) in nonclassical 3βHSD deficiency
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11. Zerah M, Rheaume E, Mani P, Schram P, Simard J, Labrie F, et al. No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3βHSD) in nonclassical 3βHSD deficiency. J Clin Endocrinol Metab 1994;79:1811-7.
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No genetic mutation in type II 3β-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency
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13. Tajima T, Nishi Y, Takase A, Nakae J, Murashita M, Fujieda K. No genetic mutation in type II 3β-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency. Horm Res 1997;47:49-53.
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Variants of the type II 3β-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents
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Evidence for reduced 3β-ol-hydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome
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