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.
Marker Type | Symbol | Name |
---|---|---|
Gene | fat1a | FAT atypical cadherin 1a |
Gene | fat1b | FAT atypical cadherin 1b |
Gene | fat4 | FAT atypical cadherin 4 |