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Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature

BackgroundHao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by pathogenic variants in the USP7 gene. This condition is associated with a distinct DNA methylation episignature that aids its diagnosis. While microarray-based methods have traditionally been used to detect thes...

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Furkejuvvon:
Váldodahkkit: Liselot van der Laan, Martin A. Haagmans, Andrea Venema, Jennifer Kerkhof, Michael A. Levy, Silvana Briuglia, Pilar Caro, Sebastian Sailer, Christian P. Schaaf, Bekim Sadikovic, Mieke M. van Haelst, Mariëlle van Gijn, Mariëlle Alders, Peter Henneman
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Frontiers Media S.A. 2026-01-01
Ráidu:Frontiers in Genetics
Fáttát:
DNA methylation
episignature
Hao-Fountain syndrome
nanopore
USP7
Liŋkkat:https://www.frontiersin.org/articles/10.3389/fgene.2025.1730165/full
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