Article
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2019
Arnaud Pauline, Hanna Nadine, Benarroch Louise, Aubart Mélodie, Bal Laurence, Bouvagnet Patrice, Busa Tiffany, Dulac Yves, Dupuis-Girod Sophie, Edouard Thomas, Faivre Laurence, Gouya Laurent, Lacombe Didier, Langeois Maud, Leheup Bruno, Milleron Olivier, Naudion Sophie, Odent Sylvie, Tchitchinadze Maria, Ropers Jacques, Jondeau Guillaume, Boileau Catherine
Abstract excerpt
PURPOSE: Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD. METHODS:...
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