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 / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
choanal atresia zf195Tg + CRISPR1-smchd1 (AB) standard conditions TAS