Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects

BACKGROUND AND OBJECTIVES: Neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV) is a recently described rare syndrome caused by loss-of-function variations in CTNNB1 gene which includes developmental delay, intellectual deficiency, visual defects, and other features. Startle...

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Detalles Bibliográficos
Autores principales: Bulot, Vincent, Ramond, Francis, Mauguière, François, Mazzola, Laure
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679886/
https://www.ncbi.nlm.nih.gov/pubmed/36419413
http://dx.doi.org/10.1212/NXG.0000000000200039

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