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Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Human molecular genetics - 22 Jun 2022

Han Ji Hoon, Ryan Gavin, Guy Alyson, Liu Lu, Quinodoz Mathieu, Helbling Ingrid, Lai-Cheong Joey E, Barwell Julian, Folcher Marc, McGrath John A, Moss Celia, Rivolta Carlo

Abstract excerpt

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), in four affected individuals from two UK families of Pakistani and Indian origins, respectively. Our analysis showed that only one gene, LTV1, carried...

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PMID: 34999892
DOI: 10.1093/hmg/ddab368
PMCID: PMC9239743

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