ReviewFrontiers in endocrinology2022
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.The Journal of clinical endocrinology and metabolism · 2026Article
- [Congenital adrenal hyperplasia].Problemy endokrinologii · 2026Review
- Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.European journal of human genetics : EJHG · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants inFrontiers in pediatrics · 2026Article
- Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.Journal of the Endocrine Society · 2025Review
- Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.BMC medical genomics · 2025Article
- CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.Biomedicines · 2024Article
- Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants ofCurrent issues in molecular biology · 2024Article
- Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.Frontiers in endocrinology · 2024Article
- Review
- Article
- Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.Advances in laboratory medicine · 2023Article
- Case Report: A combination of chimericFrontiers in endocrinology · 2023Article
- Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.Diagnostics (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.