Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Jul;182(7):1819-1823.
doi: 10.1002/ajmg.a.61591. Epub 2020 Apr 14.

Aortic dilation in Sotos syndrome: An underestimated feature?

Affiliations

Aortic dilation in Sotos syndrome: An underestimated feature?

Lidia Pezzani et al. Am J Med Genet A. 2020 Jul.
No abstract available

PubMed Disclaimer

References

REFERENCES

    1. Boileau, A., Lindsay, M. E., Michel, J. B., & Devaux, Y. (2018). Epigenetics in ascending thoracic aortic aneurysm and dissection. Aorta (Stamford, Conn.), 6(1), 1-12. https://doi.org/10.1055/s-0038-1639610
    1. Dasouki, M., Markova, D., Garola, R., Sasaki, T., Charbonneau, N. L., Sakai, L. Y., & Chu, M. L. (2007). Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. American Journal of Medical Genetics, Part A, 143A(22), 2635-2641. https://doi.org/10.1002/ajmg.a.31980
    1. Fahrner, J. A., & Bjornsson, H. T. (2014). Mendelian disorders of the epigenetic machinery: Tipping the balance of chromatin states. Annual Review of Genomics and Human Genetics, 15, 269-293. https://doi.org/10.1146/annurev-genom-090613-094245
    1. Foster, A., Zachariou, A., Loveday, C., Ashraf, T., Blair, E., Clayton-Smith, J., … Tatton-Brown, K. (2019). The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 181(4), 502-508.
    1. Guo, D. C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., … Milewicz, D. M. (2007). Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature Genetics, 39(12), 1488-1493. https://doi.org/10.1038/ng.2007.6

MeSH terms

LinkOut - more resources