Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

1. Martinez, F.J.
2. Lee, J.H.
3. Lee, J.E.
4. Blanco, S.
5. Nickerson, E.
6. Gabrie, S.
7. Frye, M.
8. Al-Gazali, L.
9. Gleeson, J.G.