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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
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Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
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Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum
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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
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Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum