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

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 dysgenesis. The...

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Detalles Bibliográficos
Autores principales: Fernández-Marmiesse, A., Pérez-Poyato, M. S., Fontalba, A., Marco de Lucas, E., Martínez, M. T., Cabero Pérez, M. J., Couce, M. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591933/
https://www.ncbi.nlm.nih.gov/pubmed/31234783
http://dx.doi.org/10.1186/s12881-019-0844-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591933/
https://www.ncbi.nlm.nih.gov/pubmed/31234783
http://dx.doi.org/10.1186/s12881-019-0844-5

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