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Genetics of the stromal corneal dystrophies
Author(s) -
NOWINSKA A
Publication year - 2013
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2013.3632.x
Subject(s) - tgfbi , corneal dystrophy , stromal cell , phenotype , genetics , biology , genotype , population , decorin , cancer research , medicine , gene , ophthalmology , cornea , extracellular matrix , environmental health , proteoglycan
Genes connected to the occurrence of the stromal corneal dystrophies include: TGFBI (Transforming growth factor, beta‐induced), CHST6 (Carbohydrate sulfotransferase 6), UBIAD1 (UbiA prenyltransferase domain containing 1), DCN (Decorin) and PIP5K3 (Phosphatidylinositol 5‐Kinase type III). The description of each stromal corneal dystrophy genotype and phenotype will be presented based on the known literature as well as on the examples of eyes of the patients originating from polish population.