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Article

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.

Clinical endocrinology - 1 Jun 1998

Rumsby G, Avey C J, Conway G S, Honour J W

Abstract excerpt

OBJECTIVE: To establish the type and frequency of mutations causing late onset 21-hydroxylase deficiency and associated clinical and biochemical phenotypes and to compare these findings to those from heterozygotes and homozygotes for classical 21-hydroxylase deficiency. DESIGN: Analysis of the 21-hydroxylase genes by DNA amplification and mutation detection. Measurement of serum 17-hydroxyprogesterone following...

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PMID: 9713558
DOI: 10.1046/j.1365-2265.1998.00402.x

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