: Medical genetics can reveal how genetic variations shape human biology by addressing a critical question: how does a genetic lesion become a phenotype? Facioscapulohumeral muscular dystrophy (FSHD), exemplifies how a seemingly simple genetic lesion can affect multiple layers of cellular regulation, affecting 'everything, everywhere all at once'.
Everything, everywhere: FSHD as a model for complex genetic disease / Salsi, V., Losi, F., Tupler, R.. - In: TRENDS IN GENETICS. - ISSN 0168-9525. - (2026), pp. 1-6. [10.1016/j.tig.2026.07.006]
Everything, everywhere: FSHD as a model for complex genetic disease
Salsi, Valentina;Losi, Francesca;Tupler, Rossella
2026
Abstract
: Medical genetics can reveal how genetic variations shape human biology by addressing a critical question: how does a genetic lesion become a phenotype? Facioscapulohumeral muscular dystrophy (FSHD), exemplifies how a seemingly simple genetic lesion can affect multiple layers of cellular regulation, affecting 'everything, everywhere all at once'.
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