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Mutational analysis and clinical correlation in Leber congenital amaurosis.
Ophthalmic Genet. 2000 Sep;21(3):135-50.
Ophthalmic Genet. 2000.
PMID: 11035546
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.
Abouzeid H, et al.
Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840.
Ophthalmic Genet. 2006.
PMID: 16543197
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A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I.
Silva E, et al.
Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451.
Ophthalmic Genet. 2004.
PMID: 15512997
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Posterior polar cataract: genetic analysis of a large family.
Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O.
Finzi S, et al.
Ophthalmic Genet. 2005 Sep;26(3):125-30. doi: 10.1080/13816810500229124.
Ophthalmic Genet. 2005.
PMID: 16272057
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