Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids (Q57632783)

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English	Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids	article

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9 November 2019

Genotyping of the type II 3beta-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated delta(5)-steroids (English)

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9 November 2019

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9 November 2019

Berenice Bilharinho Mendonca

6

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9 November 2019

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A J Russell

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9 November 2019

F J Paula

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9 November 2019

I Dick-de-Paula

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9 November 2019

J A Marcondes

5

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1 September 2000

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9 November 2019

Fertility and Sterility

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9 November 2019

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9 November 2019

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9 November 2019

553-557

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9 November 2019

The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

1 reference

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7 January 2021

Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women

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Genetic defects of steroidogenesis in premature pubarche

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Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity

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No genetic mutation in type II 3 beta-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency

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Structure-function relationships and molecular genetics of the 3 beta-hydroxysteroid dehydrogenase gene family

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Congenital adrenal hyperplasia

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Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency.

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7 January 2021

Mutation in 3 beta-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 siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

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Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

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Variation in the expression of human 3β-hydroxysteroid dehydrogenase

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New Insight into the Molecular Basis of 3 -Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzy

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7 January 2021

Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

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Clinical assessment of body hair growth in women

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10.1016/S0015-0282(00)00668-3

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10973654%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

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9 November 2019

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