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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Bibliografiska uppgifter
I publikationen:Hypertension
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
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Article
Länkar: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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