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

作者信息

Bormann M, Kochhan L, Knorr D, Bidlingmaier F, Olek K

机构信息

Institut für Klinische Biochemie, Universität Bonn, Germany.

出版信息

Acta Endocrinol (Copenh). 1992 Jan;126(1):7-9. doi: 10.1530/acta.0.1260007.

DOI:10.1530/acta.0.1260007
PMID:1736550
Abstract

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.

摘要

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引用本文的文献

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Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.非经典型先天性肾上腺皮质增生症同胞关系的内分泌学与生长发育学
Arch Dis Child. 1996 May;74(5):406-11. doi: 10.1136/adc.74.5.406.
2
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.21-羟化酶缺乏所致先天性肾上腺皮质增生症的成功产前治疗。
Eur J Pediatr. 1994 Aug;153(8):556-9. doi: 10.1007/BF02190657.