Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
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DOI: 10.1093/hmg/ddab368
Abstract: Abstract In the framework of the UK 100 000 Genomes Project, we investigated the genetic origin of a previously undescribed recessive dermatological condition, which we named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses),… read more here.
Keywords: gene; ribosome biogenesis; gene ltv1; affected individuals ... See more keywords