Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Introduction: Despite the progress made in the study of Facioscapulohumeral Dystrophy (FSHD), the wide heterogeneity of disease complicates its diagnosis and the genotype-phenotype correlation among patients and within families. In this context, the present work employed Whole Exome Sequencing (WES)...

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Detalles Bibliográficos
Autores principales: Strafella, Claudia, Caputo, Valerio, Bortolani, Sara, Torchia, Eleonora, Megalizzi, Domenica, Trastulli, Giulia, Monforte, Mauro, Colantoni, Luca, Caltagirone, Carlo, Ricci, Enzo, Tasca, Giorgio, Cascella, Raffaella, Giardina, Emiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10477786/
https://www.ncbi.nlm.nih.gov/pubmed/37674478
http://dx.doi.org/10.3389/fgene.2023.1235589

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