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Cornea, ISSN 0277-3740, 01/2017, Volume 36, Issue 4, pp. e14 - e14
Journal Article
Cornea, ISSN 0277-3740, 06/2019, Volume 38, Issue 6, pp. 758 - 760
PURPOSE:To report a simultaneous occurrence of 2 rare corneal dystrophies. METHODS:A 30-year-old man with a family history of posterior polymorphous corneal... 
Dimethylallyltranstransferase - genetics | Humans | Corneal Dystrophies, Hereditary - genetics | Adult | Male | Corneal Dystrophies, Hereditary - diagnosis | Mutation | Zinc Finger E-box-Binding Homeobox 1 - genetics | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, p. e0175509
Posterior polymorphous corneal dystrophy (PPCD) is characterized by abnormal proliferation of corneal endothelial cells. It was shown that TGF-[beta]2 present... 
Hereditary corneal dystrophies | Aqueous humor | Research | Transforming growth factors | Health aspects
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 02/2018, Volume 96, Issue 1, pp. e87 - e91
PurposeTo identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. MethodsDetailed ophthalmological examination... 
phenotype | KERA | novel mutation | cornea plana | KERATOCAN | DECOMPENSATION | SEQUENCE | DISEASE | OPHTHALMOLOGY | PROTEIN FUNCTION | Pathogenicity | Pathogens | Cornea | Missense mutation | Thinning | Microscopy | Eye (anatomy) | Mutation | Patients | Endothelial cells | Heterozygosity | Index Medicus
Journal Article
Molecular Biology Reports, ISSN 0301-4851, 12/2017, Volume 44, Issue 6, pp. 441 - 441
There was a spacing error in the initial online publication, and there were errors in the Acknowledgments section. The original article has been updated. 
Life Sciences | Animal Biochemistry | Animal Anatomy / Morphology / Histology | Cataract | Neurosciences | Genetic aspects | Genetic disorders | Ophthalmology | Segregation | Cataracts
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD). OMIM# of the disease 122000; 609141; 618031. Name of the analysed... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1843 - 1848
Journal Article