Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

In this study, we used deletions at 22q13, which represent a substantial source of human
pathology (Phelan/McDermid syndrome), as a model for investigating the molecular …

Background Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1–
3% of the general population. Mutations in more than 10% of all human genes are …

Abstract Chromosome 17p13. 3 is a gene rich region that when deleted is associated with
the well‐known Miller–Dieker syndrome. A recently described duplication syndrome …

Phelan–McDermid syndrome (22q13. 3 deletion syndrome) is a contiguous gene disorder
resulting from the deletion of the distal long arm of chromosome 22. SHANK3, a gene within …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Pitt‐Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial
gestalt and additional features, such as breathing anomalies. Following the discovery of the …

Objectives Prader-Willi syndrome (PWS) significantly impacts health-related quality of life;
however, its relational and existential aspects remain unknown in Italian clinical and social …

During the COVID-19 pandemic, the Oasi Research Institute of Troina (Italy) became an
important hotbed for infection; in fact, 109 patients with different levels of Intellectual …

We report on mosaic 46, XY/46, XY, del (5)(p15) cri du chat syndrome. The clinical findings
are compared with those compiled from a literature survey. A phoniatric evaluation was …