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Article

An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Wedell A

Abstract excerpt

An update on the molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is given. In Sweden, direct mutation detection has been used for genetic diagnosis of this disease since 1990. Around 400 affected 21-hydroxylase genes have been analyzed so far. Mutations that have arisen by interaction with the adjacent pseudogene, including gene deletion and nine smaller sequence aberrations,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9829208
DOI: 10.1515/jpem.1998.11.5.581

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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