Browsing Centre for Cell Biology and Cutaneous Research by Author "Maiellaro, M"
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RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
McGeoghan, F; Camera, E; Maiellaro, M; Menon, M; Huang, M; Dewan, P; Ziaj, S; Caley, MP; Donaldson, M; Enright, AJ (Frontiers Media, 2023-06-07)Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol ...