Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

✍ Scribed by Karin Writzl; Zvonka Rener Primec; Barbara Gnidovec Stražišar; Damjan Osredkar; Nuška Pečarič-Meglič; Branka Stirn Kranjc; Kiyomi Nishiyama; Naomichi Matsumoto; Hirotomo Saitsu

• Book ID: 114748280
• Publisher: Wiley (Blackwell Publishing)
• Year: 2012
• Tongue: English
• Weight: 452 KB
• Volume: 53
• Category: Article
• ISSN: 0013-9580
• DOI: 10.1111/j.1528-1167.2012.03437.x