Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
CPAMD8基因突变导致一种独特的常染色体隐性遗传性前段发育不全
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.022
Cheong, Sek-Shir; Hentschel, Lisa; Davidson, Alice E; Gerrelli, Dianne; Davie, Rebecca; Rizzo, Roberta; Pontikos, Nikolas; Plagnol, Vincent; Moore, Anthony T; Sowden, Jane C; Michaelides, Michel; Snead, Martin; Tuft, Stephen J; Hardcastle, Alison J