| 1 | MCOP2, MCOPS5, OTX2
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| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
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| Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.
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| Clin Genet 79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x.
2011
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| 2 | MCOP2, VSX2
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| Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
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| Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK.
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| Hum Genet 128(1):51-60. Epub 2010 Apr 23.PMID: 20414678 2010
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| 3 | MCIA, MCOP2, VSX2
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| Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
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| Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.
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| Clin Genet 72(2):164-6. No abstract available.
2007
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| 4 | MCOP2, MCOPS5, OTX2
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| Heterozygous mutations of OTX2 cause severe ocular malformations.
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| Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.
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| Am J Hum Genet 76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. 2005
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| 5 | MCOP2, VSX2
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| CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
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| Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.
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| Hum Genet 115(4):302-9. 2004
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| 6 | MCOP2
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| Isolated clinical anophthalmia in an extensively affected Arab kindred.
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| Kohn G, el Shawwa R, el Rayyes E.
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| Clin Genet 33(5):321-4. 1988
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