지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 360 - 363 (4page)
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초록· 키워드
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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 there has been few reports on genetically confirmed ARS in Korea.
We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in Korea.
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참고문헌 (19)
참고문헌 신청
Berry FB / 2006 / Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis / H
Borges AS / 2002 / Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil / J Glaucoma 11 : 51 ~ 56
Chang TC / 2012 / Axenfeld-Rieger syndrome: new perspectives / Br J Ophthalmol 96 : 318 ~ 322
Cho HJ / 2000 / A case of Axenfeld-Rieger syndrome / J Korean Ophthalmol Soc 41 : 258 ~ 263
Diehl AG / 2006 / Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose / Invest Ophthalmol Vis Sci 47 : 1785 ~ 1793
Borges AS / 2002 / Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil / J Glaucoma 11 : 51 ~ 56
Chang TC / 2012 / Axenfeld-Rieger syndrome: new perspectives / Br J Ophthalmol 96 : 318 ~ 322
Cho HJ / 2000 / A case of Axenfeld-Rieger syndrome / J Korean Ophthalmol Soc 41 : 258 ~ 263
Diehl AG / 2006 / Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose / Invest Ophthalmol Vis Sci 47 : 1785 ~ 1793
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