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

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 (...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Alleles
Child
DNA Mutational Analysis
Female
Genotype
Humans
Male
Mutation
Pedigree
Steroid 21-Hydroxylase

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