Expanding the phenotypic spectrum associated with OPHN1 variants

Autor: Schwartz, Talia S., Wojcik, Monica H., Pelletier, Renee C., Edward, Heather L., Picker, Jonathan D., Holm, Ingrid A., Towne, Meghan C., Beggs, Alan H., Agrawal, Pankaj B.
Zdroj: In European Journal of Medical Genetics February 2019 62(2):137-143
Databáze: ScienceDirect