Corneal dystrophiesGene: GRHL2
PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT
Created: 1 Apr 2019, 2:30 p.m.
gene: GRHL2 was added gene: GRHL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRHL2 were set to 29499165 Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4 618031