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Congenital contractural arachnodactyly : delineation of clinical criteria
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Arterial tortuosity syndrome : 29 novel families
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Congenital contractural arachnodactyly
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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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Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
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- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
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Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing
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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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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity