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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)
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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
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Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
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TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
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Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II