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A clinical scoring system for congenital contractural arachnodactyly
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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
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- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
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- Journal Article
- A1
- open access
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
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New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(12). p.693-700 -
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
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GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations