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UnknownArterial tortuosity syndrome in two Italian paediatric patients.
Not available
S-EPMC2759904 | biostudies-literature
UnknownCellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.
Not available
S-EPMC6723307 | biostudies-literature
UnknownMultisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Not available
S-EPMC7393722 | biostudies-literature
UnknownTranscriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
Not available
S-EPMC5773204 | biostudies-literature
UnknownMolecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
Not available
S-EPMC6361458 | biostudies-literature
UnknownGLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
Not available
S-EPMC4634379 | biostudies-literature
UnknownExpanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Not available
S-EPMC7963414 | biostudies-literature
UnknownFurther Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Not available
S-EPMC6770791 | biostudies-literature
UnknownClinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.
Not available
S-EPMC6895888 | biostudies-literature
UnknownMatrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
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S-EPMC8621259 | biostudies-literature
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