Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia

Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal recessive spinocerebellar ataxia, type 23 (SCAR23). This is a very rare and progressive neurodegenerative disorder described in only nine patients to date, and caused by splice site o...

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Detalles Bibliográficos
Autores principales: Zagnoli-Vieira, Guido, Brazina, Jan, Van Den Bogaert, Kris, Huybrechts, Wim, Molenaers, Guy, Caldecott, Keith W., Van Esch, Hilde
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449949/
https://www.ncbi.nlm.nih.gov/pubmed/37558815
http://dx.doi.org/10.1007/s00439-023-02589-3

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