References
- Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 2000; 130:107–115.
- Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Ant Ophthalmol Soc. 1983;81: 736–784.
- Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci. 2000;57: 1652–1666.
- Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11: 1177–1184.
- Walter M. PITs and FOXes in ocular genetics: The Cogan Lecture. Invest Ophthalmol Vis Sci. 2003;44: 1402–1405.
- Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet. 1978;15:30–34.
- Traboulsi El. Ocular malformations and developmental genes. J AAPOS. 1998;2:317–323.
- Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392–399.
- Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/ PITX2) gene. Am J Ophthalmol. 1998;125:98—m0.
- Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEGI gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113–1117.
- Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis ScL 2000;41: 2456–2460.
- Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, Walter MA, Heon E. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet. 200110:1631-1638.
- Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem. 2001;276:23034–23041.
- Borges AS, Susanna JR R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. Genetic analysis of PITX2 and FOXCI in Rieger syndrome patients from Brazil. J Glaucoma. 2002;11: 51–56.
- Phillips JC. Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Ophthalmic Res. 2002;34:324–326.
- Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEGI gene associated with Peters' anomaly. J Med Genet. 1999;36: 152–155.
- Amendt BA, Sutherland LB, Russo AF. Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. Mol Cell Biol. 1999;19: 7001–7010.