Publications by authors named "Estefania Garrone"
Article Synopsis
- * Whole genome sequencing (WGS) has improved diagnostic rates for these diseases, achieving around 41% in pediatrics and up to 48.5% in neurology cases.
- * Successful application of WGS led to a diagnosis for a 7-year-old girl with a severe artery disease linked to mutations in the YY1AP1 gene, highlighting its potential as a diagnostic tool for rare diseases and expanding the understanding of associated mutations.
