Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. - Lahrouchi N; George A; Ratbi I; Schneider R; Elalaoui SC; Moosa S; Bharti S; Sharma R; Abu-Asab M; Onojafe F; Adadi N; Lodder EM; et al. (Nature communications, 2019)