Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

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作者： Syx, Delfien ^[1] ; Van Damme, Tim ^[2] ; Symoens, Sofie ^[3] ; Maiburg, Merel C. ^[4] ; van de Laar, Ingrid ^[5] ; Morton, Jenny ^[6] ; Suri, Mohnish ^[7] ; Del Campo, Miguel ^[8] ; Hausser, Ingrid ; Hermanns-Le, Trinh ; De Paepe, Anne ; Malfait, Fransiska

作者单位： Liege Univ Hosp, Dept Dermatopathol, Liege, Belgium ^[1] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands ^[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands ^[3] Univ Clin Heidelberg, Inst Pathol, Heidelberg, Germany ^[4] Birmingham Womens Hosp, Clin Genet Unit, Birmingham, United Kingdom ^[5] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium ^[6] City Hosp Nottingham, Nottingham Clin Genet Serv, Nottingham, England ^[7] Hosp Valle De Hebron, Area Genet Clin & Mol, Barcelona, Spain ^[8]

关键词 Ehlers-Danlos syndrome EDS CHST14 dermatan 4-O-sulfotransferase-1 DSE dermatan sulfate epimerase-1

发布时间 2015-07-14

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