Heterogeneity in granular corneal dystro
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Helen S. Stewart; Alan E. Ridgway; Michael J. Dixon; Richard Bonshek; Rahat Parv
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Article
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1999
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John Wiley and Sons
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English
⚖ 383 KB
👁 2 views
Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers. Initially an exact genotype-phenotype correlation was reported