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Year: 2010

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Type: Article

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Title: Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia

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Author: Violeta Anastasovska
Author: Mirjana Kocova

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Abstract: Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity.

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Publisher: Walter de Gruyter GmbH

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Relation: Journal of Pediatric Endocrinology and Metabolism

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Identifier: oai:repository.ukim.mk:20.500.12188/11133
Identifier: 0334-018X
Identifier: http://hdl.handle.net/20.500.12188/11133
Identifier: 10.1515/jpem.2010.147
Identifier: https://www.degruyter.com/view/j/jpem.2010.23.issue-9/jpem.2010.147/jpem.2010.147.pdf
Identifier: 23
Identifier: 9

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