A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
Open accessThe claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
CYP3A4 is responsible for metabolizing nearly 50% of commonly prescribed medications.
“Of particular clinical relevance, CYP3A4 is responsible for metabolizing nearly 50% of commonly prescribed medications (65, 66).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [66]
The case report’s main text describes POR and steroidogenic enzymes, but does not address CYP3A4’s role in metabolizing prescribed medications. Searches for CYP3A4, drug metabolism, and the nearly 50% figure found no supporting passage in our copy; none of the passages gives a contrary figure either. (LLM, conf=0.76)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509 · see citing works
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Adès, L., Sillence, D., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.26 · Cited by 123 · see citing works
Adachi, M., Tachibana, K., Asakura, Y., Yamamoto, T., Hanaki, K., & Oka, A. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30169 · Cited by 110 · see citing works
Flagged first, then by citations
Research works printed but not linked: 5
- [1]Chun K Siegel-Bartelt J Chitayat D Phillips J Ray PN FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome Am J Med Genet 1998 77 219 224 9605588
- [2]Miller WL P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations Trends Endocrinol Metab 2004 15 311 315 15350602
- [6]Sahakitrungruang T Huang N Tee MK Agrawal V Russell WE Crock P Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients J Clin Endocrinol Metab 2009 94 4992 5000 19837910 PMC2795645
- [7]Ko JM Cheon CK Kim GH Yoo HW A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene Eur J Pediatr 2009 168 877 880 18853185
- [9]Adachi M Asakura Y Matsuo M Yamamoto T Hanaki K Arlt W POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait Am J Med Genet A 2006 140 633 635 16470797
Cited by
Sorted by citations
Dean, B., Chrisp, G. L., Quartararo, M., Maguire, A. M., Hameed, S., King, B. R., Munns, C. F., Torpy, D. J., Falhammar, H., & Rushworth, R. L. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz255 · Cited by 43 · see citing works
Lee, Y., Choi, J.-H., Oh, A., Kim, G.-H., Park, S.-H., Moon, J. E., Ko, C. W., Cheon, C.-K., & Yoo, H.-W. (2020) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.1938152.076 · Cited by 16 · see citing works
Zhang, C., Zhao, Z., Du, Y., Huang, Q., Liu, Y., Fu, G., & Xu, J. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1791297
- Authors
- Oh, J., Song, J.-S., Park, J. E., Jang, S. Y., Ki, C.-S., & Kim, D.-K.
- Affiliations
- Samsung Medical Center (KR)
- Corresponding author
- Ki, Chang-Seok
- Kim, Duk-Kyung
- Venue
- Annals of Laboratory Medicine
- Publisher
- Annals of Laboratory Medicine
- Published
- 2017-11-01
- Volume
- 37
- Issue
- 6
- Pages
- 559-562
- ISSN
- 2234-3806 (ISSN-L)
- 2234-3814
- PMC
- PMC5587836
- OpenAlex
- W2753786773
- Cited by
- 11
- References
- 4
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 2 · 2020: 1 · 2019: 3
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Annals of Laboratory Medicine (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- Antley-Bixler syndrome, POR gene, phenylalanine hydroxylase, novel variants, likely pathogenic variants, congenital disorders of glycosylation, skeletal dysplasia, craniosynostosis
- MeSH terms
- Elbow, Female, Foot, Hand, Heterozygote, Humans, NADPH-Ferrihemoprotein Reductase, Pedigree, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Antley-Bixler Syndrome Phenotype, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
