6533b858fe1ef96bd12b5618
RESEARCH PRODUCT
Malformations of central nervous system: General issues
Ettore PiroA. AlongiD. DomianelloC. SanfilippoG. SerraL. PipitoneA. BallacchinoS. ProvenzanoI. A. M. SchierzG. Corsellosubject
Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/31 - OtorinolaringoiatriaCNS malformations genetic investigations developmental delay.description
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-01-01 |