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👉The distribution of #D4Z4 repeats in #China and direct prenatal diagnosis of #FSHD by optical genome mapping
💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis
t.co/1mpXs68lxp
👉SIX transcription factors are necessary for the activation of DUX4 expression in #fshd
💡Involvement of SIX transcription factors in the promotion of #DUX4 expression epigenetic derepression of the #D4Z4 repeats.
📰skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-...
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👉Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset #FSHD
💡Confirmation of #D4Z4 repeat reduction, particularly in cases involving parental #mosaicism
📰www.sciencedirect.com/science/article/abs/pii/...
