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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Bibliografiska uppgifter
Huvudupphovsmän: Volkmann, Bethany A., Zinkevich, Natalya S., Mustonen, Aki, Schilter, Kala F., Bosenko, Dmitry V., Reis, Linda M., Broeckel, Ulrich, Link, Brian A., Semina, Elena V.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Länkar: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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