Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

Autosomal Recessive Spinocerebellar Ataxia 20, SCAR20, is a rare condition characterized by intellectual disability, lack of speech, ataxia, coarse facies and macrocephaly, caused by SNX14 variants. While all cases described are due to homozygous variants that generally result in loss of protein, so...

Descripción completa

Detalles Bibliográficos
Autores principales: Maia, Nuno, Soares, Gabriela, Silva, Cecília, Marques, Isabel, Rodrigues, Bárbara, Santos, Rosário, Melo-Pires, Manuel, de Brouwer, Arjan PM, Temudo, Teresa, Jorge, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543990/
https://www.ncbi.nlm.nih.gov/pubmed/33193593
http://dx.doi.org/10.3389/fgene.2020.01038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543990/
https://www.ncbi.nlm.nih.gov/pubmed/33193593
http://dx.doi.org/10.3389/fgene.2020.01038

Ejemplares similares