Lahrouchi et al., 2019 - Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nature communications   10:1180 Full text @ Nat. Commun.
3 Genes / Markers
Marker Type Symbol Name
Gene fat1a FAT atypical cadherin 1a
Gene fat1b FAT atypical cadherin 1b
Gene fat4 FAT atypical cadherin 4