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Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1.

作者信息

Berezowska Sabina, Christe Andreas, Bartholdi Deborah, Koch Markus, von Garnier Christophe

机构信息

1 Institute of Pathology, University of Bern, Bern, Switzerland.

2 Department of Diagnostic, Interventional and Pediatric Radiology.

出版信息

Am J Respir Crit Care Med. 2018 Mar 1;197(5):661-662. doi: 10.1164/rccm.201709-1963IM.

DOI:10.1164/rccm.201709-1963IM
PMID:29323927
Abstract
摘要

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Respir Med Case Rep. 2024 Sep 16;52:102119. doi: 10.1016/j.rmcr.2024.102119. eCollection 2024.
2
Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.鉴定血管型 Ehlers-Danlos 综合征患者中的两个新型 COL3A1 变异体。
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Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
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Physiol Rep. 2022 Apr;10(8):e15275. doi: 10.14814/phy2.15275.
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