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Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

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Published in 2021 at "Diagnostics"

DOI: 10.3390/diagnostics11081469

Abstract: The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics. Interestingly, all forms of FSHD are linked to epigenetic changes in… read more here.

Keywords: genomic sequencing; fshd; fshd1 fshd2; bisulfite genomic ... See more keywords