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corneal dystrophies, hereditary - diagnosis (17) 17
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corneal dystrophies, hereditary (15) 15
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Human Mutation, ISSN 1059-7794, 07/2006, Volume 27, Issue 7, pp. 615 - 625
Journal Article
PROTEOMICS – Clinical Applications, ISSN 1862-8346, 04/2014, Volume 8, Issue 3-4, pp. 168 - 177
Journal Article
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2017, Volume 10, Issue 3, pp. 343 - 347
AIM:To report a phenotypic variant pedigree of lattice corneal dystrophy(LCD)associated with two mutations,R124C and A546 D,in the transforming growth factor... 
Phenotype | Mutation | Transforming growth factor beta-induced gene | Corneal dystrophy | phenotype | SISTERS | TGFBI BIGH3 GENE | GELSOLIN GENE | KOREAN PATIENTS | corneal dystrophy | transforming growth factor beta-induced gene | VARIANT | AVELLINO | mutation | AMYLOIDOSIS | BETA-IG-H3 | OPHTHALMOLOGY | IIIA
Journal Article
Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
Journal Article
International Eye Science, ISSN 1672-5123, 03/2017, Volume 17, Issue 3, pp. 449 - 450
BIGH3 gene plays an important role in ocular diseases. On the one hand, it is closely related to the occurrence of corneal diseases. BIGH3 gene can inhibit... 
Diabetic retinopathy | Corneal dystrophy | Keratoconus | Corneal neovascularization | BIGH3 | corneal dystrophy | keratoconus | diabetic retinopathy | corneal neovascularization
Journal Article
CORNEA, ISSN 0277-3740, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2016, Volume 9, Issue 2, pp. 198 - 203
AIM: To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the... 
Mutations | Chinese | Corneal dystrophy | Transforming growth factor beta-induce | transforming growth factor beta-induce | mutations | PROTEIN | TGFBI BIGH3 GENE | EXON 14 | BETA-IG-H3 | OPHTHALMOLOGY | corneal dystrophy | FAMILY
Journal Article