Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder

VPS13D is one of four human homologs of the vacuolar sorting protein 13 gene (VPS13). Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with intronic pathogenic variants: one patient with early onset severe spastic ataxia...

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Detalles Bibliográficos
Autores principales: Pauly, Martje G., Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953040/
https://www.ncbi.nlm.nih.gov/pubmed/36768210
http://dx.doi.org/10.3390/ijms24031874

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