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The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums

Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revis...

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Detalles Bibliográficos
Autores principales: Seo, Go Hun, Kim, Yoon-Myung, Kang, Eungu, Kim, Gu-Hwan, Seo, Eul-Ju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976283/
https://www.ncbi.nlm.nih.gov/pubmed/29768367
http://dx.doi.org/10.1097/MD.0000000000010767