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Article

[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study].

Medicina clinica - 4 Oct 1997

Martínez Olmos M A, Varela J M, Ezquieta B, Hillman N, Díez J J

Abstract excerpt

BACKGROUND: 21-hydroxilase deficiency accounts for over 90% of all cases of congenital adrenal hyperplasia (CAH). There is a non-negligible incidence of both severe and nonclassical forms of this genetic disorder. Enzyme deficiency is due to mutations in the gene encoding adrenal 21-hydroxylase (named CYP 21B) and is inherited in an autosomical recesive way. Complete or partial impairment of enzyme activity has...

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PMID: 9379733

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[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study].PMID 9379733Read ↗

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.Semantic proximity Read ↗

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21-Hydroxylase deficiency: from molecular genetics to clinical presentation.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Because of 21-Hydroxylase DeficiencySemantic proximity Read ↗

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Semantic proximity Read ↗

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Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical ImplicationsSemantic proximity Read ↗

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[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].Semantic proximity Read ↗

[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].Semantic proximity Read ↗

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.Semantic proximity Read ↗

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