Genetic Conditions > Axenfeld-Rieger syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Axenfeld-Rieger syndrome.

Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol. 2012 Mar;96(3):318-22. doi: 10.1136/bjophthalmol-2011-300801. Epub 2011 Dec 23. Review. PubMed citation
D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. PubMed citation
Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. Review. PubMed citation
Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anterior segment dysgeneses. Surv Ophthalmol. 2006 May-Jun;51(3):213-31. Review. PubMed citation
Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996 Sep;59(3):613-9. PubMed citation
Strungaru MH, Dinu I, Walter MA. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37. PubMed citation
Tümer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Review. PubMed citation


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