PFMG2025–integrating genomic medicine into the national healthcare system in France

Archive ouverte | Abadie, Caroline | CCSD

International audience. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patien...

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Archive ouverte | Chevarin, Martin | CCSD

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Archive ouverte | Arnaud, Pauline | CCSD

IF 5.451. International audience. Background Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygo...