NFIA haploinsufficiency: case series and literature review

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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Bibliographic Details
Main Authors: Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Pediatrics
Subjects:
NFIA
neurodevelopmental disorders
intellectual disability
genetics
pediatrics
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1292654/full

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