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

• Main Authors: A. Fernández-Marmiesse (Author), M. S. Pérez-Poyato (Author), A. Fontalba (Author), E. Marco de Lucas (Author), M. T. Martínez (Author), M. J. Cabero Pérez (Author), M. L. Couce (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...