Everything, everywhere: FSHD as a model for complex genetic disease.

Authors

Valentina Salsi, Francesca Losi, Rossella Tupler

Published in

Trends in genetics : TIG. Aug 12, 2026. Epub Aug 12, 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'.

PMID:
42586911
Bibliographic data and abstract were imported from PubMed on 13 Aug 2026.

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