Etiqueta: Neurología
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Variants in synaptic scaffolding protein PPFIA3 discovered to cause new syndromic neurodevelopmental disorder
An international collaborative study has recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder. The study was published in the American Journal of Human Genetics. The research was led by postdoctoral scientist Dr. Maimuna Paul and child neurologist Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the…
