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Clinical and molecular features of 66 patients with musculocontractural EhlersâDanlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
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- Journal Article
- A1
- open access
Heritable connective tissue disorders in childhood : increased fatigue, pain, disability and decreased general health
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
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Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
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- Journal Article
- A1
- open access
The revised Ghent nosology for the Marfan syndrome