P7 Familial cryptogenic porto-sinusoidal vascular disease associated with arterial aneurysmal disease
This familial PSVD associated with arterial aneurysms adds to growing literature establishing PSVD as a genetic entity. The novel BMPR2 variant we identified is interesting but currently unresolved as it does not clearly segregate the disease phenotype across the extended family. Further genomic ana...
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Veröffentlicht in: | Gut 2023-09, Vol.72 (Suppl 3), p.A17-A18 |
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Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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Zusammenfassung: | This familial PSVD associated with arterial aneurysms adds to growing literature establishing PSVD as a genetic entity. The novel BMPR2 variant we identified is interesting but currently unresolved as it does not clearly segregate the disease phenotype across the extended family. Further genomic analysis is underway. |
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ISSN: | 0017-5749 1468-3288 |
DOI: | 10.1136/gutjnl-2023-BASL.23 |