Clinical Diversity in Patients With Schnyder Corneal Dystrophy—a Novel and Known UBIAD1 Pathogenic Variants

Graefe's Archive for Clinical and Experimental Ophthalmology - Germany
doi 10.1007/s00417-018-4075-9
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

PLoS ONE
Multidisciplinary
2007English

Schnyder Corneal Dystrophy-Associated UBIAD1 Is Defective in MK-4 Synthesis and Resists Autophagy-Mediated Degradation

Journal of Lipid Research
BiochemistryEndocrinologyCell Biology
2020English

Hereditary Crystalline Stromal Dystrophy of Schnyder. I. Clinical Features of a Family With Hyperlipoproteinaemia.

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
1972English

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology
Neurology
2019English

No Pathogenic Mutations Identified in theCOL8A2Gene or Four Positional Candidate Genes in Patients With Posterior Polymorphous Corneal Dystrophy

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2005English

Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2007English

Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2010English

A Possible Novel TGFBI Mutation Ser591Phe in a Finnish Family With Lattice Corneal Dystrophy

Acta Ophthalmologica
MedicineOphthalmology
2018English

Congenital Endothelial Corneal Dystrophy. Clinical, Pathological, and Genetic Study.

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
1969English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy