title: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Jacques U
authors.initials: JU
authors.lastname: Baenziger
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Munis
authors.initials: M
authors.lastname: Dündar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D003025:Clubfoot / Q000235:genetics / Q000378:metabolism; D003871:Dermatan Sulfate / Q000096:biosynthesis*; D004535:Ehlers-Danlos Syndrome; D005124:Eye Abnormalities; D016368:Frameshift Mutation; D006801:Humans; D007593:Joint Instability / Q000151:congenital; D012868:Skin Abnormalities; D015238:Sulfotransferases / Q000235:genetics* / Q000378:metabolism; D013933:Thumb / Q000002:abnormalities
chemical_list: D003871:Dermatan Sulfate; D015238:Sulfotransferases; C438013:dermatan-4-sulfotransferase-1