| アイテムタイプ |
itemtype_ver1(1) |
| 公開日 |
2025-01-24 |
| タイトル |
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|
タイトル |
A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions |
|
言語 |
en |
| 著者 |
Yamamoto, Hidenori
Tanabe, Ayako
Kato, Taichi
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| アクセス権 |
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|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利 |
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|
権利情報 |
This article has been published in a revised form in [Cardiology in the Young] [http://doi.org/10.1017/S104795112402585X]. This version is free to view and download for private research and study only. Not for re-distribution or re-use. © The Author(s), 2024. Published by Cambridge University Press. |
|
言語 |
en |
| 内容記述 |
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|
内容記述タイプ |
Abstract |
|
内容記述 |
Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2, which is typically the responsible gene for Loeys–Dietz syndrome. Validation of the clinical diagnosis by genetic testing is warranted. |
|
言語 |
en |
| 出版者 |
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出版者 |
Cambridge University Press |
|
言語 |
en |
| 言語 |
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|
言語 |
eng |
| 資源タイプ |
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資源タイプresource |
http://purl.org/coar/resource_type/c_6501 |
|
タイプ |
journal article |
| 出版タイプ |
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|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 関連情報 |
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|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1017/S104795112402585X |
| 収録物識別子 |
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|
収録物識別子タイプ |
PISSN |
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収録物識別子 |
1047-9511 |
| 書誌情報 |
en : Cardiology in the Young
巻 34,
号 9,
p. 2030-2032,
発行日 2024-09
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| ファイル公開日 |
|
|
日付 |
2025-03-01 |
|
日付タイプ |
Available |
manuscript_TGFBR2_CTY.pdf (281 KB)
