NFIA haploinsufficiency: case series and literature review

• Main Authors: Gianluca Dini (Author), Alberto Verrotti (Author), Paolo Gorello (Author), Luca Soliani (Author), Duccio Maria Cordelli (Author), Vincenzo Antona (Author), Amedea Mencarelli (Author), Davide Colavito (Author), Paolo Prontera (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundNFIA-related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described.MethodsOur study incl...