Publications by authors named "Manuela Fernandez-Guijarro"
Genes (Basel)
September 2022
Article Synopsis
- Fragile X syndrome (FXS) results from an abnormal increase in CGG repeats in the 5' UTR of the gene, which can lead to varying severity of symptoms based on cellular expression of FMRP.
- Mosaicism in size and methylation is common in FXS and may correlate with less severe phenotypes.
- This study discusses a specific FXS case linked to a complete hemizygous deletion of the gene due to maternal mosaicism and reviews other cases of gene deletions in mosaic patterns.
