Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2009114.pdf
Reference5 articles.
1. Myles WM, Flanders ME, Chitayat D, Brownstein S . Peters' anomaly: a clinicopathologic study. J Pediatr Ophthalmol Strabismus 1992; 29: 374–381.
2. Matsubara A, Ozeki H, Matsunaga N, Nozaki M, Ashikari M, Shirai S et al. Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol 2001; 85: 1421–1425.
3. Evans AL, Gage PJ . Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet 2005; 14: 3347–3359.
4. Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet 2006; 15: 905–919.
5. Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H et al. Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet A 2006; 140: 503–508.
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