Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Autosomal recessive spinocerebellar ataxia type 20, SCAR20 (MIM: 616354) is a rare syndromic form of hereditary ataxias. It characterized by the presence of progressive ataxia, intellectual developmental disorder, autism and dysmorphic features. The disease caused by biallelic variants in SNX14 gene...

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Detalles Bibliográficos
Autores principales: Levchenko, Olga, Filatova, Alexandra, Mishina, Irina, Antonenko, Aleksey, Skoblov, Mikhail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359490/
https://www.ncbi.nlm.nih.gov/pubmed/37485342
http://dx.doi.org/10.3389/fgene.2023.1197681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359490/
https://www.ncbi.nlm.nih.gov/pubmed/37485342
http://dx.doi.org/10.3389/fgene.2023.1197681

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