NFIA haploinsufficiency: case series and literature review
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...
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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) |
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Format: | Book |
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Frontiers Media S.A.,
2023-10-01T00:00:00Z.
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