Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies. We...

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Detalles Bibliográficos
Autores principales: Rodrigues Bento, Jotte, Krebsová, Alice, Van Gucht, Ilse, Valdivia Callejon, Irene, Van Berendoncks, An, Votypka, Pavel, Luyckx, Ilse, Peldova, Petra, Laga, Steven, Havelka, Marek, Van Laer, Lut, Trunecka, Pavel, Boeckx, Nele, Verstraeten, Aline, Macek, Milan, Meester, Josephina A. N., Loeys, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084246/
https://www.ncbi.nlm.nih.gov/pubmed/35819173
http://dx.doi.org/10.1002/humu.24433

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084246/
https://www.ncbi.nlm.nih.gov/pubmed/35819173
http://dx.doi.org/10.1002/humu.24433

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