GeneticsbioRxivPreprint
SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome
Camille Laberthonnìère, Raphaël Chevalier, Camille Dion…·Frédérique Magdinier
The paper investigates SMCHD1's role in two genetic syndromes, showing it regulates chromatin and gene expression through DNA methylation and chromatin organization.
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