Unusual phenotype of an individual with the R124C mutation in the TGFBI gene.
Morishige
Naoyuki
N
Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, Ube, Japan. morishig@yamaguchi-u.ac.jp
Chikama
Tai-ichiro
T
Ishimura
Yoshitsugu
Y
Nishida
Teruo
T
Takahashi
Mutsuo
M
Mashima
Yukihiko
Y
D000328:Adult; D003315:Cornea / Q000648:ultrastructure; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein