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pro vyhledávání: '"Ulrike Schwarze, MD"'
Autor:
Nicolas A. Stafforini, MD, Nallely Saldana-Ruiz, MD, MPH, Scott DeRoo, MD, Ulrike Schwarze, MD, Matthew P. Sweet, MD, Sara L. Zettervall, MD, MPH
Publikováno v:
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 4, Pp 101519- (2024)
Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome are genetic aortopathies that result from abnormal collagen matrix formation associated with vascular complications and early death. Identification of simultaneous COL3A1 and SMAD3 mutations as
Externí odkaz:
https://doaj.org/article/8041f4bd440d44c683d2aea7ad3f3f9e
