| 1 | MFRP, MPRF
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| A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
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| Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR.
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| Mol Vis 16:540-8.PMID: 20361016 2010
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| 2 | MFRP, MPRF, NNO2
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| Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
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| Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA.
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| Mol Vis 15:1794-8.PMID: 19753314 2009
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| 3 | MFRP, MPRF
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| A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
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| Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC.
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| Am J Ophthalmol 146(2):323-328. Epub 2008 Jun 13.PMID: 18554571 2008
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| 4 | MFRP, MPRF
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| A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
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| Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC.
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| Mol Vis 12:1483-9. 2006
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