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

[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2020

Huang Shurong, Su Zhe, Zhang Longjiang, Zhao Xiu, Wen Pengqiang

Abstract excerpt

OBJECTIVE: To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region. METHODS: Clinical characteristics and the results of genetic testing were reviewed. RESULTS: The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with...

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 Child

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

Share to Heterozygote

Share to Mutation

Share to Promoter Regions, Genetic

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 32761585
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.003

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

[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].PMID 32761585Read ↗

Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.Semantic proximity Read ↗

[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].Semantic proximity Read ↗

[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].Semantic proximity Read ↗

[Hirsutism. Two familial cases of 21-hydroxylase deficiency].Semantic proximity Read ↗

[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].Semantic proximity Read ↗

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.Semantic proximity Read ↗

[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family].Semantic proximity Read ↗

[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].Semantic proximity Read ↗

[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency].Semantic proximity Read ↗

Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?Semantic proximity Read ↗

[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].Semantic proximity Read ↗

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