A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus...

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Marcheix, Bertrand, Dulac, Yves, Edouard, Thomas, Plaisancié, Julie, Aubert‐Mucca, Marion, Julia, Sophie, Langeois, Maud, Lavabre‐Bertrand, Thierry, Khau Van Kien, Philippe
Publicado 2021

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Chassaing, Nicolas, Coubes, Christine, Brischoux-Boucher, Elise, Edouard, Thomas, Dulac, Yves, Aubert-Mucca, Marion, Lavabre-Bertrand, Thierry, Plaisancié, Julie, Khau Van Kien, Philippe
Publicado 2021

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

por Chesneau, Bertrand, Edouard, Thomas, Dulac, Yves, Colineaux, Hélène, Langeois, Maud, Hanna, Nadine, Boileau, Catherine, Arnaud, Pauline, Chassaing, Nicolas, Julia, Sophie, Jondeau, Guillaume, Plancke, Aurélie, Khau Van Kien, Philippe, Plaisancié, Julie
Publicado 2020