A novel mutation of TGFBR2 causing Loeys–Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections
- 7 August 2015
- journal article
- Published by Elsevier BV in International Journal of Cardiology
- Vol. 201, 288-290
- https://doi.org/10.1016/j.ijcard.2015.07.109
Abstract
No abstract availableFunding Information
- Ministry of Health, Labour and Welfare (H26-Nanchi-Ippan-046)
This publication has 10 references indexed in Scilit:
- A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigreesInternational Journal of Cardiology, 2015
- Loeys–Dietz syndrome: a primer for diagnosis and managementGenetics in Medicine, 2014
- Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmNature Genetics, 2012
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisNature Genetics, 2011
- Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1American Journal of Neuroradiology, 2009
- Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutationsJournal of Medical Genetics, 2009
- Aneurysm Syndromes Caused by Mutations in the TGF-β ReceptorThe New England Journal of Medicine, 2006
- A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Nature Genetics, 2005
- Heterozygous TGFBR2 mutations in Marfan syndromeNature Genetics, 2004
- Revised diagnostic criteria for the Marfan syndromeAmerican Journal of Medical Genetics, 1996