De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
Hilton
E N
EN
Black
G C M
GC
Manson
F D C
FD
Schorderet
D F
DF
Munier
F L
FL
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
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein