Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

• मुख्य लेखकों: A. Fernández-Marmiesse (लेखक), M. S. Pérez-Poyato (लेखक), A. Fontalba (लेखक), E. Marco de Lucas (लेखक), M. T. Martínez (लेखक), M. J. Cabero Pérez (लेखक), M. L. Couce (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgene...