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Clinica Terapeutica, ISSN 0009-9074, 2014, Volume 165, Issue 1, pp. e73 - e75
Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice... 
Lattice corneal dystrophies | Corneal dystrophy | TGFBI gene | Transforming Growth Factor beta - genetics | Exons | Extracellular Matrix Proteins - genetics | Humans | Middle Aged | Corneal Dystrophies, Hereditary - genetics | Female | Mutation | Siblings
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 06/2006, Volume 27, Issue 6, pp. 553 - 557
Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common... 
MATRIX | Cogan dystrophy | PROTEIN | epithelial basement membrane corneal dystrophy | corneal dystrophy | CELL-ADHESION | FIBROBLASTS | BIGH3 | GROWTH-FACTOR-BETA | IN-VITRO | EBMD | BETA-IG-H3 | CLONING | GENETICS & HEREDITY | BIGH3 GENE | TGFBI | TISSUES
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
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
by Chae, H and Kim, M and Kim, Y and Kim, J and Kwon, A and Choi, H and Park, J and Jang, W and Lee, Y.S and Park, S.H and Kim, M.S
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 678 - 689
Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis... 
posterior polymorphous corneal dystrophy | macular corneal dystrophy | molecular genetic analysis | Thiel–Behnke corneal dystrophy | Fuchs endothelial corneal dystrophy | granular corneal dystrophy | Schnyder corneal dystrophy | lattice corneal dystrophy | Korea | Molecular genetic analysis | Granular corneal dystrophy | Posterior polymorphous corneal dystrophy | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | IC3D CLASSIFICATION | MISSENSE MUTATIONS | COL8A2 GENE | HEREDITARY ENDOTHELIAL DYSTROPHY | GENETICS & HEREDITY | BIGH3 GENE | L527R MUTATION | TGFBI GENE-MUTATIONS | JAPANESE PATIENTS | PROTEIN FUNCTION | LATTICE | Sulfotransferases - genetics | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Corneal Dystrophies, Hereditary - genetics | Family Health | Male | Corneal Dystrophies, Hereditary - ethnology | Zinc Finger E-box-Binding Homeobox 1 - genetics | Transforming Growth Factor beta - genetics | Dimethylallyltranstransferase - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Adult | Female | Genetic Predisposition to Disease - ethnology | Aged | Mutation | Republic of Korea | Collagen Type VIII - genetics | Genetic aspects | Gene mutations | Analysis | Endothelium | Eye diseases | Cornea | Genetic disorders | Index Medicus
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
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2013, Volume 6, Issue 4, pp. 458 - 462
AIM:To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type... 
mutation | TGFBI | atypical | gene | granularcornealdystrophy | Atypical | Granular corneal dystrophy | Gene mutation | PROTEIN | BETA-IG-H3 | gene mutation | PHENOTYPE | OPHTHALMOLOGY | granular corneal dystrophy | CDNA | BIGH3 GENE-MUTATIONS | LATTICE
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 10/2010, Volume 27, Issue 5, pp. 489 - 492
Journal Article