- Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome
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Park SW, Kim HG, Heo H, Park YG
- KMID: 1115657
- Korean J Ophthalmol.
- 2009 Mar;23(1):62-64.
- doi: 10.3341/kjo.2009.23.1.62
Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in... -
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- Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
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Yun JW, Cho HK, Oh SY, Ki CS, Kee C
- KMID: 1781343
- Ann Lab Med.
- 2013 Sep;33(5):360-363.
- doi: 10.3343/alm.2013.33.5.360
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but... -
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- A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
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Yang HJ, Lee YK, Joo CK, Moon JI, Mok JW, Park MH
- KMID: 2363769
- Korean J Ophthalmol.
- 2015 Aug;29(4):249-255.
- doi: 10.3341/kjo.2015.29.4.249
PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family... -
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