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

High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Clinical genetics - 1 Dec 2013

Phedonos A A P, Shammas C, Skordis N, Kyriakides T C, Neocleous V, Phylactou L A

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the basis of newborn screening. The main objective of this study was to determine the carrier frequency in the Cypriot population of mutations in the CYP21A2 gene. Three...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Cyprus
Share to Gene Frequency

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

Share to Heterozygote

Share to Mutation

Share to Prevalence

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 23600966
DOI: 10.1111/cge.12153

Variants

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

High carrier frequency of 21-hydroxylase deficiency in Cyprus.PMID 23600966Read ↗

Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.Semantic proximity Read ↗

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.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 ↗

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.Semantic proximity Read ↗

High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.Semantic proximity Read ↗

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

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

Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.Semantic proximity Read ↗

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.Semantic proximity Read ↗

Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiencySemantic proximity Read ↗

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

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