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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
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
Biomedical Papers, ISSN 1213-8118, 04/2019
AIMSBrittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to... 
Journal Article
Acta ophthalmologica, ISSN 1755-375X, 05/2019
To describe the ocular findings of 12 subjects with paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS).... 
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 3084 - 3090
PURPOSE. To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss... 
MUTATION ANALYSIS | PHENOTYPE | SLC4A11 | congenital hereditary endothelial dystrophy | corneal endothelial-like cells model | IDENTIFICATION | PLURIPOTENT STEM-CELLS | MUTANTS | GENE | DYSTROPHY | OPHTHALMOLOGY | induced pluripotent stem cells | GENERATION
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 528 - 539
Journal Article