Cargando…
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
Autores principales: | King-Robson, Josh, Marshall, Joseph, Smith, Frances, Willoughby, Leanne, Mansour, Sahar, Sztriha, Laszlo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054956/ https://www.ncbi.nlm.nih.gov/pubmed/33884299 http://dx.doi.org/10.1212/NXG.0000000000000580 |
Ejemplares similares
-
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
por: Davidsson, Josef, et al.
Publicado: (2018) -
Ataxia-pancytopenia syndrome with SAMD9L mutations
por: Gorcenco, Sorina, et al.
Publicado: (2017) -
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
por: Paucar, Martin, et al.
Publicado: (2021) -
SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression
por: Russell, Amanda J., et al.
Publicado: (2021) -
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
por: Ng, Yi Shiau, et al.
Publicado: (2017)