Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were found to harbor de novo loss‐of‐function variants...

Descripción completa

Detalles Bibliográficos
Autores principales: Taylor, James, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Philippe, Christophe, Bruel, Ange‐Line, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, Meena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305207/
https://www.ncbi.nlm.nih.gov/pubmed/35138025
http://dx.doi.org/10.1002/ajmg.a.62677

Ejemplares similares

Ejemplares similares