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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Vydáno v:Hypertension
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup: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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