![](/img/cover-not-exists.png)
WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement
Karakaya, M., Kunde, V., Heller, R., Nürnberg, P., Cirak, S.Volume:
25
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2015.06.328
Date:
October, 2015
File:
PDF, 205 KB
english, 2015