TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report
Abstract Background Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. “Porto-sinusoidal vascular disease” has been recently proposed, according to new diagnostic criteria, to replace...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05031-6 |
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