Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report

OBJECTIVES: To report a novel association between pathogenic variants in the SEPSECS gene and complex movement disorder with thin corpus callosum (TCC). METHODS: Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neu...

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Detalles Bibliográficos
Autores principales: Nicita, Francesco, Travaglini, Lorena, Bombelli, Francesco, Tosi, Michele, Pro, Stefano, Bertini, Enrico, D'Amico, Adele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893591/
https://www.ncbi.nlm.nih.gov/pubmed/35252561
http://dx.doi.org/10.1212/NXG.0000000000000661

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