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'.
No takes yet. Share an insight, caveat, or question.
Salsi et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: