Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

[1] Weiss JS(2015)IC3D classification of corneal dystrophies--edition 2 Cornea 34 117-159

[2] Moller HU(2015)Molecular pathogenesis of corneal dystrophies: Schnyder dystrophy and granular corneal dystrophy type 2 Prog Mol Biol Transl Sci 134 99-115

[3] Aldave AJ(2007)Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy PLoS One 2 e685-5012

[4] Seitz B(2007)Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy Invest Ophthalmol Vis Sci 48 5007-298

[5] Bredrup C(2009)Schnyder corneal dystrophy Curr Opin Ophthalmol 20 292-96

[6] Kivela T(2011)Differential diagnosis of Schnyder corneal dystrophy Dev Ophthalmol 48 67-712

[7] Munier FL(2016)The Oskar Fehr lecture Klin Monatsbl Augenheilkd 233 708-689

[8] Rapuano CJ(2016)Mutational spectrum of Korean patients with corneal dystrophy Clin Genet 89 678-329

[9] Nischal KK(2016)Identification of the first de novo UBIAD1 gene mutation associated with Schnyder corneal dystrophy J Ophthalmol 2016 1968493-503

[10] Kim EK(2013)The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes Hum Mutat 34 317-864

[1] Weiss JS(2015)IC3D classification of corneal dystrophies--edition 2 Cornea 34 117-159

[2] Moller HU(2015)Molecular pathogenesis of corneal dystrophies: Schnyder dystrophy and granular corneal dystrophy type 2 Prog Mol Biol Transl Sci 134 99-115

[3] Aldave AJ(2007)Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy PLoS One 2 e685-5012

[4] Seitz B(2007)Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy Invest Ophthalmol Vis Sci 48 5007-298

[5] Bredrup C(2009)Schnyder corneal dystrophy Curr Opin Ophthalmol 20 292-96

[6] Kivela T(2011)Differential diagnosis of Schnyder corneal dystrophy Dev Ophthalmol 48 67-712

[7] Munier FL(2016)The Oskar Fehr lecture Klin Monatsbl Augenheilkd 233 708-689

[8] Rapuano CJ(2016)Mutational spectrum of Korean patients with corneal dystrophy Clin Genet 89 678-329

[9] Nischal KK(2016)Identification of the first de novo UBIAD1 gene mutation associated with Schnyder corneal dystrophy J Ophthalmol 2016 1968493-503

[10] Kim EK(2013)The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes Hum Mutat 34 317-864