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Human Mutation|September 16, 2010
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 geneFransiska Malfait, Delfien Syx, Philip Vlummens, et al.
Human Mutation|January 11, 2007
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthoodFransiska Malfait, Sofie Symoens, Julie De Backer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2021
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagenTibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, et al.
Human Mutation|September 2, 2022
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanismsMarlies Colman, Robin Vroman, Tibbe Dhooge, et al.
American Journal of Physiology. Cell Physiology|August 22, 2022
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromesDelfien Syx, Sarah Delbaere, Catherine Bui, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Human Molecular Genetics|January 19, 2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaBrecht Guillemyn, Hülya Kayserili, Lynn Demuynck, et al.
Plos One|June 16, 2022
Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controlsStijn De Baets, Ellen Cruyt, Patrick Calders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrixSarah Delbaere, Tibbe Dhooge, Delfien Syx, et al.
Human Genetics|April 29, 2010
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)Delfien Syx, Fransiska Malfait, Lut Van Laer, et al.
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