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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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: 2018
Fag:
Online adgang: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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