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 Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants.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...

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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

Internet

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

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