article_metadata: Nuno Maia Gabriela Soares Cecília Silva Isabel Marques Bárbara Rodrigues Rosário Santos Manuel Melo-Pires Arjan Pm de Brouwer Teresa Temudo Paula Jorge
article_metadata: 10.3389/fgene.2020.01038
article_metadata: Front Genet
article_metadata: 2020 Sep 24;11:1038.
article_metadata: autosomal recessive spinocerebellar ataxia 20 snx14 gene cerebellar hypoplasia complex genomic rearrangement exome sequencing intellectual disability
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33193593/
article_metadata: Case Reports
article_metadata: PMC7543990
article_metadata: 33193593
article_metadata: Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
article_metadata: 2020