Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1


YİŞ U., Uyanik G., Rosendahl D. M. , Carman K. B. , BAYRAM E., Heise M., ...Daha Fazla

PEDIATRIC NEUROLOGY, cilt.50, ss.491-497, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease.