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doi: 10.1016/j.schres.2020.05.044 195 ClarkSMNotarangeloFMLiXChenSSchwarczRTonelliLH

Studies show that MMI and CBZ (FDA category D are linked to aplasia cutis and a rare embryopathy that includes choanal atresia, esophageal problems, and dysmorphological characteristics

From these studies, it is therefore tempting to speculate that C9orf72 is involved in the regulation of redox homeostasis through NOX2

doi: 10.3390/ijms22041619
however, many patients may still be misdiagnosed