Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
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Background: Diagnosing facioscapulohumeral muscular dystrophy (FSHD) requires integrated evaluation of D4Z4 repeat size, permissive haplotype status, epigenetic context and alternative molecular aetiologies, particularly in borde... ...
