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