References
Seim BE, Holt MF, Ratajska A, Michelsen A, Ringseth MM, Halvorsen BE et al (2022) Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Front Cardiovasc Med 9:1073069
Zou S, Ren P, Nguyen M, Coselli JS, Shen YH, LeMaire SA (2012) Notch signaling in descending thoracic aortic aneurysm and dissection. PLoS One 7(12):e52833
Wang Q, Guo X, Huo B, Feng X, Fang ZM, Jiang DS, et al (2022) Integrating Bulk Transcriptome and Single-Cell RNA Sequencing Data Reveals the Landscape of the Immune Microenvironment in Thoracic Aortic Aneurysms. Front Cardiovasc Med 9:846421
El-Gazzar A, Kang H, Fratzl-Zelman N, Webb E, Barnes AM, Jovanovic M, et al (2022) SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-beta pathway and enhancing osteoclastogenesis. Bone Rep 17:101603
Funding
This work was supported by grants from the National Natural Science Foundation of China (81400079 to W.S., 82200151 to Z.S.), “Liu Da Ren Cai Gao Feng” of JiangSu Province, China (2017-WSN-026) (W.S.) and “Youth Medical Talent of Empowering Medicine through Science and Education Programe” from Jiangsu Provincial Commission of Health and Family planning, China (QNRC2016565) (W.S.)
Author information
Authors and Affiliations
Contributions
Q.Z. and W.S. were responsible for overall design, data collection, analysis, statistical analysis, interpretation, manuscript preparation, and writing of the manuscript; Y.S. and C.Q. performed the experiment and analyzed data. Z.S. and H.J. contributed to verification of the experiments. Y.C., C.L., and B.C. contributed to manuscript preparation. F.H. and W.Y. interpreted the results; J.L. provided clinical specimens. C.Q. and W.S. provided clinical specimens and edited the manuscript; all the authors read and approved the final manuscript.
Corresponding authors
Ethics declarations
Ethical approval
In accordance with the Helsinki Declaration, the study was approved by the Ethics Committee of Nanjing Medical University First Affiliated Hospital (No 2021-SR-506). Written informed consent was obtained from this patient and her guardians.
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Zha, Q., Shi, Y., Shi, Z. et al. Loeys-Dietz syndrome with concomitant aplastic anemia. Ann Hematol 103, 1793–1795 (2024). https://doi.org/10.1007/s00277-024-05637-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-024-05637-8