Case Report: Late-onset liver cirrhosis in an elderly patient with FBN1-related Geleophysic Dysplasia
BackgroundFBN1-related geleophysic dysplasia (GD2) is an ultrarare autosomal dominant disorder caused by dominant-negative missense variants in the TGFβ-binding protein-like domain 5 (TB5) of FBN1. It is characterized by severe short stature, brachydactyly, progressive joint stiffness, and cardiac v...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2026-09-01
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| Col·lecció: | Frontiers in Endocrinology |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fendo.2026.1822591/full |
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