Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene (Q28184736)

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object named as

J Simard

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author name string

Y Morel

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F Mebarki

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M Zachmann

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M G Forest

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M I New

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F Labrie

https://scigraph.springernature.com/pub.10.1038/ng0792-239

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language of work or name

English

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publication date

July 1992

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published in

Nature Genetics

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volume

1

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page(s)

239-45

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issue

4

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exact match

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Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty

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Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients

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17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

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Acquired adrenal hyperplasia: with special reference to 3 beta-hydroxysteroid dehydrogenase

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Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

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Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

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Structure of the Human Type II 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4Isomerase (3β-HSD) Gene: Adrenal and Gonadal Specificity

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The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

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Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia

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Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-beta-hydroxysteroid dehydrogenase. Case report of a surviving girl and steroid studies

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Pitfalls in the etiological diagnosis of congenital adrenal hyperplasia in the early neonatal period

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Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

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Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency*

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Development of activity of 3 beta-hydroxysteroid dehydrogenase in human fetal tissues and in two anencephalic newborns

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3β-Hydroxysteroid Dehydrogenase Activity in Glandular and Extraglandular Human Fetal Tissues*

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