Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

Por Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
Publicado no Neurol Genet (2017)