Cargando…
Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis. Case presentation: Our patient is a woman with a...
Autores principales: | Velasco, Harvy, Ramírez-Montaño, Diana |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861145/ https://www.ncbi.nlm.nih.gov/pubmed/29593781 http://dx.doi.org/10.3389/fgene.2018.00086 |
Ejemplares similares
-
Spinocerebellar ataxia type 31 (SCA31)
por: Ishikawa, Kinya
Publicado: (2022) -
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
por: Borroni, Barbara, et al.
Publicado: (2016) -
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
por: Depondt, Chantal, et al.
Publicado: (2016) -
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)
por: Figueroa, Karla P., et al.
Publicado: (2011) -
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
por: Choubtum, Lulin, et al.
Publicado: (2015)