Shaw et al., 2017
- SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nature Genetics
49(2):238-248
Full text @ Nat. Genet.
| Human Disease | Fish | Environment | Evidence Code |
|---|---|---|---|
| choanal atresia | zf195Tg + CRISPR1-smchd1 (AB) | standard conditions | |
| facioscapulohumeral muscular dystrophy 2 |