title: Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene.
abstract: Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice corneal dystrophy are reported. Genomic DNA was extracted from peripheral blood and 3 new mutations in association with exons 11-12-14 of the TGFBI gene were found.
authors.affiliation: Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
authors.forename: C
authors.initials: C
authors.lastname: Costagliola
authors.affiliation: Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy; St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
authors.forename: V
authors.initials: V
authors.lastname: Romano
authors.affiliation: Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
authors.forename: F
authors.initials: F
authors.lastname: Cifariello
authors.affiliation: Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
authors.forename: F
authors.initials: F
authors.lastname: Aceto
authors.affiliation: Department of Structural and Functional Biology, University of Naples, Federico II, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Porcellini
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D035781:Siblings; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein