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Biomarker and diagnostic research for epimetaphyseal skeletal dysplasia has been reported in the published literature.
No clinical trials have been registered for epimetaphyseal skeletal dysplasia.
5 publications have been identified in PubMed for epimetaphyseal skeletal dysplasia. Research spans Case Report / Case Series (60%), Diagnostic / Biomarker (20%), and Basic Science / Preclinical (20%).
Nevarez L (2026). [PMID: 41574606](https://pubmed.ncbi.nlm.nih.gov/41574606/). *JCI Insight*. [Basic Science / Preclinical]
Iijima H (2025). [PMID: 39995633](https://pubmed.ncbi.nlm.nih.gov/39995633/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Yeter B (2025). [PMID: 39849673](https://pubmed.ncbi.nlm.nih.gov/39849673/). *J Clin Res Pediatr Endocrinol*. [Diagnostic / Biomarker]
Elmakhzen B (2024). [PMID: 39617845](https://pubmed.ncbi.nlm.nih.gov/39617845/). *Mol Biol Rep*. [Case Report / Case Series]
Arslan G (2024). [PMID: 39295451](https://pubmed.ncbi.nlm.nih.gov/39295451/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center