Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report

BACKGROUND: IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalc...

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Detalles Bibliográficos
Autores principales: Khan, Wardah Javed, Maqsood, Hamza, Younus, Shifa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462932/
https://www.ncbi.nlm.nih.gov/pubmed/37649702
http://dx.doi.org/10.1136/bmjno-2023-000459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462932/
https://www.ncbi.nlm.nih.gov/pubmed/37649702
http://dx.doi.org/10.1136/bmjno-2023-000459

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