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Article

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Sept 2001

Hampf M, Dao N T, Hoan N T, Bernhardt R

Abstract excerpt

Congenital adrenal hyperplasia is one of the most frequently inherited diseases. It is characterized by a severe decline in cortisol secretion, which results in a compensatory increase in ACTH and consequent adrenal growth (hyperplasia). Here we describe the first case of 11beta-hydroxylase deficiency that is caused by an unequal cross-over of the genes encoding aldosterone synthase (CYP11B2) and...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Crossing Over, Genetic

Share to Cytochrome P-450 CYP11B2

Share to Gene Expression Regulation, Enzymologic

Share to Oligonucleotides

Share to Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 11549691
DOI: 10.1210/jcem.86.9.7820

Provenance

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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Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.PMID 11549691Read ↗

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Deletion Hybrid Genes, due to Unequal Crossing Over betweenCYP11B1(11β-Hydroxylase) andCYP11B2(Aldosterone Synthase) Cause Steroid 11β-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia1Semantic proximity Read ↗

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