12Ehlers-Danlos syndromes and Marfan syndrome
Section snippets
Acknowledgements
The authors are indebted to Paul Coucke and Sofie Symoens for supervision of the molecular and biochemical analyses, and to Petra Van Acker and Karen Wettinck for technical assistance. This work is supported by Grant G.0171.05 and Grant G.0094.06 from the fund for Scientific Research-Flanders (to ADP), a GOA Research Grant from the Ghent University (to ADP) and by the Geneskin Consortium within the Sixth Framework Programme of the European Commission.
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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
2022, American Journal of Human GeneticsCitation Excerpt :Our work identifies EMILIN1 as a link between elastin and collagen networks, positioning LOX function centrally in the pathogenesis of elastinopathies. This can be relevant for other monogenic disorders of the soft connective tissues, including Marfan syndrome (MIM: 154700),42 several types of EDS,43 congenital contractural arachnodactyly (MIM: 121050),44 and cutis laxa25,38 that also present with osteopenia and bone overgrowth phenotypes. Moreover, it provides an additional mechanism for variability in age-related fracture risks as reduced skin elasticity has been observed in a population with more pronounced osteopenia.45
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2021, JSES Reviews, Reports, and TechniquesEhlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons
2021, Journal of Translational AutoimmunityCitation Excerpt :These diseases can be associated with chronic pain and take a toll on the psychosocial aspect of patients. Therefore, through the use of proper diagnostic measures and evaluation, it is important to rule out EDS to ensure that suspected patients are given appropriate care accordingly [11,37,38]. Other conditions including Menkes syndrome, familial aortic aneurysms, and pseudoxanthoma elasticum can also be confused with EDS and must be differentiated.
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