Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
- Resource Type
- Article
- Authors
- Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria
- Source
- Molecular Syndromology; 2023, Vol. 14 Issue 5, p433-438, 6p
- Subject
- Language
- ISSN
- 16618769