Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2
Recent studies have uncovered that noncoding sequence variants may relate to Axenfeld-Rieger syndrome (ARS), a rare developmental anomaly with genetic heterogeneity. However, how these genomic regions are functionally and structurally associated with ARS is still unclear. In this study, we performed...
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| Główni autorzy: | , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical investigation
2024-05-01
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| Seria: | JCI Insight |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1172/jci.insight.177032 |
| Etykiety: |
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