Whole exome sequencing reveals a monogenic cause of disease in ~43% of 35 families with midaortic syndrome

Midaortic syndrome is a rare cause of severe childhood hypertension, characterized by narrowing of the abdominal aorta in children and is associated with extensive vascular disease. It may occur as part of a genetic syndrome, such as neurofibromatosis, or as consequence of a pathologic inflammatory...

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Detalhes bibliográficos
Publicado no:Hypertension
Main Authors: Warejko, Jillian K., Schueler, Markus, Vivante, Asaf, Tan, Weizhen, Daga, Ankana, Lawson, Jennifer A., Braun, Daniela A., Shril, Shirlee, Amann, Kassaundra, Somers, Michael J.G., Rodig, Nancy M., Baum, Michelle A., Daouk, Ghaleb, Traum, Avram Z., Kim, Heung Bae, Vakili, Khashayar, Porras, Diego, Lock, James, Rivkin, Michael J., Chaudry, Gulraiz, Smoot, Leslie, Singh, Michael N., Smith, Edward R., Mane, Shrikant M., Lifton, Richard P., Stein, Deborah R., Ferguson, Michael A., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5843550/
https://ncbi.nlm.nih.gov/pubmed/29483232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/HYPERTENSIONAHA.117.10296
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