Publications by authors named "Mari Luz Moreno Sancho"
Rev Esp Salud Publica
December 2020
Article Synopsis
- Phelan-McDermid syndrome is a rare genetic disorder linked to chromosome 22 alterations and is the focus of this research looking at prevalence and demographics in Spain.
- The study involved gathering clinical data from diagnosed patients over a twelve-year period, with molecular diagnosis confirmed through microarrays.
- Findings showed 201 diagnosed cases in Spain, mainly in Madrid, with a prevalence of 4 in 10,000 inhabitants, and an average diagnosis age of 6.67 years, suggesting more cases might exist unreported.
