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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

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