CLINICAL HETEROGENEITY OF 21-HYDROXYLASE DEFICIENCY OF SIBS WITH IDENTICAL 21-HYDROXYLASE GENES

被引：9

作者：

BORMANN, M ^{[1
]}

KOCHHAN, L ^{[1
]}

KNORR, D ^{[1
]}

BIDLINGMAIER, F ^{[1
]}

OLEK, K ^{[1
]}

机构：

[1] UNIV MUNICH,KINDERSPITAL,W-8000 MUNICH 2,GERMANY

来源：

ACTA ENDOCRINOLOGICA | 1992年 / 126卷 / 01期

关键词：

D O I：

10.1530/acta.0.1260007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-450(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-450(c21) genes, suggesting that other effects play a role in developing the different clinical forms.

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页码：7 / 9

页数：3

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