Rita Galluzzi
2 Papers
6 Citations
Rita Galluzzi is an academic researcher. The author has contributed to research in topics: Mutation (genetic algorithm) & Inverted repeat. The author has an hindex of 2, co-authored 2 publications.
Chat about Author
Papers
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications
Maria Clara Bonaglia,Roberto Giorda,Angelo Massagli,Rita Galluzzi,Roberto Ciccone,Orsetta Zuffardi +5 more
TL;DR: The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed, and the fact that concomitant deletions associated with inverted duplications are very likely to be more frequent than classical cytogenetic methods alone have been able to demonstrate is highlighted.
A novel familial MECP2 mutation in a young boy: Clinical and molecular findings
TL;DR: The clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene shows moderate mental retardation with autistic features and epilepsy.
8