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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Archive ouverte | Aubart, Melodie | CCSD

International audience. Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of dissection following aneurysm. MFS c...

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

Archive ouverte | Grange, Thomas | CCSD

International audience. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variabil...

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Archive ouverte | Arnaud, Pauline | CCSD

International audience. Purpose : Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTA...

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