Familial aortic disease and a large duplication in chromosome 16p13.1

BACKGROUND AND PURPOSE: A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. METHODS: Whole exome sequencing (WES) analysis was performe...

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Detalles Bibliográficos
Autores principales: Erhart, Philipp, Brandt, Tobias, Straub, Beate K., Hausser, Ingrid, Hentze, Sabine, Böckler, Dittmar, Grond‐Ginsbach, Caspar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014459/
https://www.ncbi.nlm.nih.gov/pubmed/29441698
http://dx.doi.org/10.1002/mgg3.371

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