Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
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DOI: 10.1111/cge.14533
Abstract: The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start… read more here.
Keywords: facioscapulohumeral muscular; genetics; best practice; fshd1 fshd2 ... See more keywords
Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects
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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