Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm-Reference-Cited by-同舟云学术

Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm

Published:2019-02-01 Issue:3 Volume:58 Page:387-393
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Inoguchi Yasunori¹,Kaku Bunji¹,Kitagawa Naotaka¹,Katsuda Shoji¹

Affiliation:

1. Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/58/3/58_1287-18/_pdf

Reference21 articles.

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2. 2. McDonald J, Wooderchak-Donahue W, Webb CV, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6: 1, 2015.

3. 3. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859, 2004.

4. 4. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J of Med Genet 91: 66-67, 2000.

5. 5. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 17: 860-871, 2009.

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