Muscular Dystrophy Association | Duchenne muscular dystrophy | Muscular Dystrophy | Corneal transplantation | Corneal limbus | Oculopharyngeal muscular dystrophy | muscular dystrophy | Jerry Lewis' Muscular Dystrophy Telethon | Cone dystrophy |
Human TGF-beta induced Ig-H3 (BIgH3) protein (4 FAS1 domains), where the FAS1 domains mediate cell adhesion through an interaction with alpha3/beta1 integrin; mutation in the FAS1 domains result in corneal dystrophy.
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31.
The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino.