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Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements of PITX2
PURPOSE. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease. METHODS. Conserved noncoding elements surroundin...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Association for Research in Vision and Ophthalmology, Inc.
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3101680/ https://ncbi.nlm.nih.gov/pubmed/20881290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6060 |
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