Publications by authors named "Servane de Masfrand"
Eur J Med Genet
June 2024
Article Synopsis
- The study investigates the concept of incomplete penetrance in neurodevelopmental disorders, where some individuals carry pathogenic genetic variants but remain asymptomatic.
- Between 2020 and 2022, researchers collaborated with a French network to analyze families where affected individuals had inherited these variants from symptom-free parents, finding 12 cases with significant genetic findings.
- The results suggest that incomplete penetrance may be more common than previously acknowledged, highlighting its importance for genetic interpretation, counseling, and future research into its underlying mechanisms.
