A novel mutation of TGFBR2 causing Loeys–Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections
Author:
Funder
Ministry of Health, Labour and Welfare
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference10 articles.
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2. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat. Genet.,2005
3. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis;van de Laar;Nat. Genet.,2011
4. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm;Lindsay;Nat. Genet.,2012
5. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am. J. Med. Genet.,1996
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1. Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report;Taiwanese Journal of Obstetrics and Gynecology;2024-03
2. Aortopathies and Vascular Complications;Contemporary Topics in Cardio-Obstetrics;2023
3. Clinical features and complications of Loeys-Dietz syndrome: A systematic review;International Journal of Cardiology;2022-09
4. Proposed Management Policy for Pregnant Women with Loeys-Dietz Syndrome Following Prophylactic Aortic Root Replacement Based on Experience from a Tertiary Care Center;International Heart Journal;2022-01-29
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