title: De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
authors.forename: E N
authors.initials: EN
authors.lastname: Hilton
authors.forename: G C M
authors.initials: GC
authors.lastname: Black
authors.forename: F D C
authors.initials: FD
authors.lastname: Manson
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000293:Adolescent; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; 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