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Biomarker and diagnostic research for radial deficiency-tibial hypoplasia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for radial deficiency-tibial hypoplasia syndrome.
89 publications have been identified in PubMed for radial deficiency-tibial hypoplasia syndrome. Kisho has analyzed 67 by research type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (28%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 22 | 33% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:39 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
19 |
28% |
Testing and diagnosis research | 9 | 13% |
Research summaries | 9 | 13% |
Disease patterns and progression | 6 | 9% |
Clinical study results | 1 | 1% |
New treatment approaches | 1 | 1% |
Puchol-Rizo M (2026). [PMID: 41997526](https://pubmed.ncbi.nlm.nih.gov/41997526/). *Arch Soc Esp Oftalmol (Engl Ed)*. [Case Report / Case Series]
Mao Y (2026). [PMID: 42147171](https://pubmed.ncbi.nlm.nih.gov/42147171/). *Res Sq*. [Basic Science / Preclinical]
Yu Q (2026). [PMID: 41834684](https://pubmed.ncbi.nlm.nih.gov/41834684/). *Hum Brain Mapp*. [Diagnostic / Biomarker]
Ünver G (2026). [PMID: 41841538](https://pubmed.ncbi.nlm.nih.gov/41841538/). *Ceska Gynekol*. [Review / Meta-Analysis]
Stretanski MF (2026). [PMID: 34283485](https://pubmed.ncbi.nlm.nih.gov/34283485/). *Unknown Journal*. [Basic Science / Preclinical]
Niu G (2026). [PMID: 41749423](https://pubmed.ncbi.nlm.nih.gov/41749423/). *Diabetes Obes Metab*. [Epidemiology / Natural History]
Gupta R (2026). [PMID: 41799672](https://pubmed.ncbi.nlm.nih.gov/41799672/). *J Hand Surg Glob Online*. [Case Report / Case Series]
Musante I (2026). [PMID: 41325909](https://pubmed.ncbi.nlm.nih.gov/41325909/). *Neurobiol Dis*. [Basic Science / Preclinical]
Pouliquen R (2026). [PMID: 42137788](https://pubmed.ncbi.nlm.nih.gov/42137788/). *J Endocr Soc*. [Basic Science / Preclinical]
He Y (2026). [PMID: 41961048](https://pubmed.ncbi.nlm.nih.gov/41961048/). *Echocardiography*. [Review / Meta-Analysis]