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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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- Journal Article
- A1
- open access
Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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Ehlers-Danlos syndrome, classical type
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- Journal Article
- A1
- open access
GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport