Browsing 004 Ιατρική Σχολή / Medical School by Author "Zamanakou, Maria"
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Article
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
Xiromerisiou, Georgia; Dadouli, Katerina; Marogianni, Chrysoula; Provatas, Antonios; Ntellas, Panagiotis; Rikos, Dimitrios; Stathis, Pantelis; Georgouli, Despina; Loules, Gedeon; Zamanakou, Maria; Hadjigeorgiou, Georgios M. (2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ...