A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report
Loeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. We describe a woman with a transforming growth factor beta3 (TGFβ3) mutation who displays a forme fruste phenotype of LDS5. A 43-year-old woman with joint pain and hypermobile joints under...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2023-11-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2023.0035 |
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