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Giant aortic aneurysm due to fibulin- 4 deficiency: case series

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. One 2.5-year-old p...

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Detalles Bibliográficos
Autores principales: Sülü, Ayşe, Başpınar, Osman, Şahin, Derya Aydın
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666362/
https://www.ncbi.nlm.nih.gov/pubmed/31384147
http://dx.doi.org/10.5152/TurkPediatriArs.2018.4658