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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
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Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239743/
https://www.ncbi.nlm.nih.gov/pubmed/34999892
http://dx.doi.org/10.1093/hmg/ddab368

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