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Biomarker and diagnostic research for trichorhinophalangeal syndrome has been reported in the published literature.
No clinical trials have been registered for trichorhinophalangeal syndrome.
35 publications have been identified in PubMed for trichorhinophalangeal syndrome. Research spans Diagnostic / Biomarker (40%), Case Report / Case Series (29%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Testing and diagnosis research | 14 | 40% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
10 |
29% |
Research summaries | 5 | 14% |
Laboratory research | 5 | 14% |
Disease patterns and progression | 1 | 3% |
Zhang J (2026). [PMID: 40964751](https://pubmed.ncbi.nlm.nih.gov/40964751/). *Am J Med Genet A*. [Case Report / Case Series]
Abdelhammed MH (2026). [PMID: 41605620](https://pubmed.ncbi.nlm.nih.gov/41605620/). *J Pathol Transl Med*. [Review / Meta-Analysis]
Saeki N (2026). [PMID: 40995872](https://pubmed.ncbi.nlm.nih.gov/40995872/). *Dev Dyn*. [Review / Meta-Analysis]
Caramizaru A (2026). [PMID: 41683676](https://pubmed.ncbi.nlm.nih.gov/41683676/). *Int J Mol Sci*. [Case Report / Case Series]
Valientes SDA (2026). [PMID: 41751561](https://pubmed.ncbi.nlm.nih.gov/41751561/). *Genes (Basel)*. [Case Report / Case Series]
Masoud R (2026). [PMID: 41529548](https://pubmed.ncbi.nlm.nih.gov/41529548/). *Ann Diagn Pathol*. [Diagnostic / Biomarker]
Akalın A (2025). [PMID: 40626694](https://pubmed.ncbi.nlm.nih.gov/40626694/). *Am J Med Genet A*. [Diagnostic / Biomarker]
Hashmi AA (2025). [PMID: 40025593](https://pubmed.ncbi.nlm.nih.gov/40025593/). *Diagn Pathol*. [Diagnostic / Biomarker]
Yang SH (2025). [PMID: 39191231](https://pubmed.ncbi.nlm.nih.gov/39191231/). *Pathobiology*. [Diagnostic / Biomarker]
He X (2025). [PMID: 39181273](https://pubmed.ncbi.nlm.nih.gov/39181273/). *Gene*. [Review / Meta-Analysis]
AI-curated news mentioning trichorhinophalangeal syndrome
Updated Sep 7, 2026
A novel gene variant associated with trichorhinophalangeal syndrome has been identified in a dysmorphic child presenting with cone-shaped epiphyses. This discovery may enhance diagnostic approaches for this rare genetic condition.