Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder |
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| Authors: | Fransiska Malfait,Ariana Kariminejad,Tim Van Damme,Caroline Gauche,Delfien Syx,Faten Merhi-Soussi,Sandrine Gulberti,Sofie Symoens,Suzanne Vanhauwaert,Andy Willaert,Bita Bozorgmehr,Mohamad Hasan Kariminejad,Nazanin Ebrahimiadib,Ingrid Hausser,Ann Huysseune,Sylvie Fournel-Gigleux,Anne De Paepe |
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| Affiliation: | 1 Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium;2 Kariminejad-Najmabadi Pathology & Genetics Center, 1143 Med. 4th Str. Third Phase, Shahrak Gharb, 14656 Tehran, Iran;3 UMR 7365 CNRS-Université de Lorraine (Ingénierie Moléculaire et Pharmacologie Articulaire, IMoPA), MolCelTEG Team, Biopôle UL, Faculté de Médecine, 54505 Vandoeuvre-lès-Nancy, France;4 Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, 14656 Tehran, Iran;5 Department of Dermatology, University of Heidelberg, 69120 Heidelberg, Germany;6 Biology Department, Ghent University, K.L. Ledeganckstraat 35, 9000 Gent, Belgium |
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