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The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome |
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| Authors: | Siddharth K. Prakash |
| Affiliation: | 1. https://orcid.org/0000-0001-6341-9624;2. Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.106, Houston, Texas;3. Siddharth K. Prakash, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.106, Houston, TX 77030. |
| Abstract: | Somatic mosaicism is a major modifier of turner syndrome (TS) features and may be more prevalent than once thought, as new molecular techniques enable detection of tissue‐specific mosaicism. This review explores the causes of mosaicism, discusses how mosaicism may impact congenital aortic defects in TS, and summarizes molecular methods to detect mosaicism in different contexts. |
| Keywords: | aneuploidy somatic mosaicism turner syndrome |