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

Topics Community

Article

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

PloS one - 14 May 2008

Parajes Silvia, Quinteiro Celsa, Domínguez Fernando, Loidi Lourdes

Abstract excerpt

BACKGROUND: The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs). Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most common autosomal recessive disorder with a carrier frequency of 1:25 to 1:10. The gene that encodes...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Genetic Carrier Screening
Genetic Counseling
Genetic Variation
Haplotypes
Humans
Steroid 21-Hydroxylase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18478071
DOI: 10.1371/journal.pone.0002138
PMCID: PMC2364643

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.PMID 18478071Read ↗

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Semantic proximity Read ↗

Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 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 ↗

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.Semantic proximity Read ↗

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia ChildrenSemantic proximity Read ↗

21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.Semantic proximity Read ↗

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.Semantic proximity Read ↗

Comprehensive Mutation Analysis of the CYP21A2 GeneSemantic proximity Read ↗

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Semantic proximity Read ↗

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