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

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

The Journal of clinical endocrinology and metabolism - 1 Oct 2005

Grigorescu Sido Anca, Weber Matthias M, Grigorescu Sido Paula, Clausmeyer Susanne, Heinrich Udo, Schulze Egbert

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. OBJECTIVE: The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Alleles
Child
Child, Preschool
Female
Gene Frequency
Genotype
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Romania

Steroid 11-beta-Hydroxylase

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 16046588
DOI: 10.1210/jc.2005-0379

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-16046588-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 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

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.PMID 16046588Read ↗

Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).Semantic proximity Read ↗

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with 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 ↗

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

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

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.Semantic proximity Read ↗

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.Semantic proximity Read ↗

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

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

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

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.Semantic proximity Read ↗

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.Semantic proximity Read ↗

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