Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset...

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Detalles Bibliográficos
Autores principales: Horovitz, Dafne Dain Gandelman, de Faria Domingues de Lima, Maria Angelica, Pires, Lais de Carvalho, Campos Araujo, Abelardo de Queiroz, Vargas, Fernando Regla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280516/
https://www.ncbi.nlm.nih.gov/pubmed/37346291
http://dx.doi.org/10.1177/11795735231181467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280516/
https://www.ncbi.nlm.nih.gov/pubmed/37346291
http://dx.doi.org/10.1177/11795735231181467

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