Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Autor: Zain Seidahmed, Mohammed, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S., Seidahmed, Mohammed Zain

Publikováno v: BMC Neurology; 7/15/2016, Vol. 16, p1-7, 7p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 3 Charts, 1 Graph