Cargando…
Whole exome sequencing identifies FBN1 mutations in two patients with early-onset type B aortic dissection
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early-onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinic...
Autores principales: | Han, Qian, Zhang, Wenwen, Liu, Changjian, Zhou, Min, Ran, Feng, Yi, Long, Sun, Xitai, Liu, Zhao |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865794/ https://www.ncbi.nlm.nih.gov/pubmed/28901506 http://dx.doi.org/10.3892/mmr.2017.7410 |
Ejemplares similares
-
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
por: Pu, Zhening, et al.
Publicado: (2018) -
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly
por: You, Guoling, et al.
Publicado: (2017) -
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection
por: Zhang, Wenwen, et al.
Publicado: (2018) -
Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
por: Zhang, Wenwen, et al.
Publicado: (2018) -
Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection
por: Xu, Shijun, et al.
Publicado: (2019)