Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease
Titel:
Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease
Auteur:
Macaron, Gabrielle Khoury, Jean Hajj-Ali, Rula A. Prayson, Richard A. Srivastava, Sunil Ehlers, Justis P. Mamsa, Hafsa Liszewski, M. Kathryn Jen, Joanna C. Bermel, Robert A. Ontaneda, Daniel