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Cardiovascular consequences of K(ATP) overactivity in Cantu syndrome
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9...
में बचाया:
| में प्रकाशित: | JCI Insight |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
American Society for Clinical Investigation
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6129117/ https://ncbi.nlm.nih.gov/pubmed/30089727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.121153 |
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