Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes

Autor: Bormann, Michael, Kochhan, Lothar, Knorr, Dieter, Bidlingmaier, Frank, Olek, Klaus
Zdroj: European Journal of Endocrinology; January 1992, Vol. 126 Issue: 1 p7-9, 3p
Abstrakt: 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-4 50(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-4 50(c21) genes, suggesting that other effects play a role in developing the different clinical forms.
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