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Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeats

2025-10-15

Abstract excerpt

<title>Abstract</title> <p>Facioscapulohumeral muscular dystrophy (FSHD) is genetically associated with reduction of the D4Z4 macrosatellite array at 4q35 on a permissive 4qA haplotype, a configuration that enables the stable expression of the DUX4 transcription factor. Current diagnostic and mechanistic models, however, rely heavily on the incomplete GRCh38/hg38 reference and assume that D4Z4 repeats are predomi...

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Literature Corpus work
f1dcc4b0-4c6d-518a-9d85-f085219af333
DOI
10.21203/rs.3.rs-7715146/v1
Open publication

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Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeatsDOI 10.21203/rs.3.rs-7715146/v1
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