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TGFBI Corneal Dystrophies: Reis—Bücklers Corneal Dystrophy (RBCD)

  • Kyung Eun Han,
  • Woo Chan Park,
  • R. Doyle Stulting

摘要

Reis—Bücklers corneal dystrophy (RBCD) is caused by an autosomal dominantly inherited mutation in the TGFIBI gene, R124L (Arg124Leu) in chromosome 5q31.