Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.

Clinics in laboratory medicine - 1 Mar 1996

Wedell A

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency results in deficiency of cortisol and aldosterone and overproduction of androgens. The 21-hydroxylase locus has a complicated structure, with a highly homologous pseudogene (CYP21P) and an active gene (CYP21) in tandem repeats, a high degree of interindividual variation in gene copy numbers, and exchange of sequences between CYP21P and CYP21. Nine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Genetic Markers
Share to Genotype

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

Share to Major Histocompatibility Complex

Share to Mutation

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 8867587

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.PMID 8867587Read ↗

CYP21 mutations and congenital adrenal hyperplasia.Semantic proximity Read ↗

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.Semantic proximity Read ↗

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical ImplicationsSemantic proximity Read ↗

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.Semantic proximity Read ↗

Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).Semantic proximity Read ↗

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.Semantic proximity Read ↗

Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.Semantic proximity Read ↗

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 GeneSemantic proximity Read ↗

Congenital Adrenal Hyperplasia Because of 21-Hydroxylase DeficiencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.