NFIA haploinsufficiency: case series and literature review

BACKGROUND: NFIA-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. METHODS: Our study...

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Detalles Bibliográficos
Autores principales: Dini, Gianluca, Verrotti, Alberto, Gorello, Paolo, Soliani, Luca, Cordelli, Duccio Maria, Antona, Vincenzo, Mencarelli, Amedea, Colavito, Davide, Prontera, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616848/
https://www.ncbi.nlm.nih.gov/pubmed/37915986
http://dx.doi.org/10.3389/fped.2023.1292654

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616848/
https://www.ncbi.nlm.nih.gov/pubmed/37915986
http://dx.doi.org/10.3389/fped.2023.1292654

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