Helm et al., 2017
- Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Human genomics
11:16
Full text @ Hum. Genomics
| Human Disease | Fish | Environment | Evidence Code |
|---|---|---|---|
| ciliopathy | |||
| short-rib thoracic dysplasia 9 with or without polydactyly |