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Biomarker and diagnostic research for mosaic genome-wide paternal uniparental disomy has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mosaic genome-wide paternal uniparental disomy.
6 publications have been identified in PubMed for mosaic genome-wide paternal uniparental disomy. Research spans Case Report / Case Series (50%), Other (33%), and Diagnostic / Biomarker (17%).
Benn P (2026). [PMID: 41299888](https://pubmed.ncbi.nlm.nih.gov/41299888/). *Ultrasound Obstet Gynecol*. [Diagnostic / Biomarker]
Alcántara-Ortigoza MA (2025). [PMID: 40869306](https://pubmed.ncbi.nlm.nih.gov/40869306/). *Int J Mol Sci*. [Case Report / Case Series]
Usui H (2025). [PMID: 40790971](https://pubmed.ncbi.nlm.nih.gov/40790971/). *Genes Chromosomes Cancer*. [Case Report / Case Series]
Murase A (2025). [PMID: 40830530](https://pubmed.ncbi.nlm.nih.gov/40830530/). *Hum Genomics*. [Other]
Usui H (2024). [PMID: 38051350](https://pubmed.ncbi.nlm.nih.gov/38051350/). *Virchows Arch*. [Other]
Lall AE (2024). [PMID: 38989381](https://pubmed.ncbi.nlm.nih.gov/38989381/). *Cureus*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center