Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas
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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 cerebellar ataxia or regression.
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