Construct · 1 fields · 1 citations

Loeys-Dietz syndrome: a standalone construct

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Loeys-Dietzsyndrome1 CONSTRUCTLoeys-Dietz syndromeLOEYS · MEDICAL GENETICS

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Medical genetics

an autosomal dominant aortic aneurysm syndrome with arterial tortuosity, hypertelorism and bifid uvula, caused by variants in TGF-beta pathway genes.

In medical genetics, Loeys-Dietz syndrome refers to an autosomal dominant aortic aneurysm syndrome with arterial tortuosity, hypertelorism and bifid uvula, caused by variants in TGF-beta pathway genes. This meaning comes from Loeys (2005) in Nature Genetics.[1]

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Nearby constructs

dominant1 fields · 1 citationsanchor · a standalone constructsyndrome3 fields · 3 citationsjingle · one word, three constructs

References

  1. Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, N., Sharifi, N., Xu, F. L., Myers, L. A., Spevak, P. J., Cameron, D. E., Backer, J. D., Hellemans, J., Chen, Y., Davis, E. C., Webb, C. L., Kress, W., Coucke, P., Rifkin, D. B., De Paepe, A. M., & Dietz, H. C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37(3), 275-281. https://doi.org/10.1038/ng1511

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