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Journal Article
CIRCULATION, ISSN 0009-7322, 04/2010, Volume 121, Issue 13, pp. E266 - E369
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2935 - 2940
We report on a 16‐year‐old female originally diagnosed with Marden‐Walker syndrome due to features such as facial dysmorphism, several musculoskeletal... 
dermatan 4‐O‐sulfotransferase 1 deficiency | congenital contractures | kyphoscoliosis | malformation | joint laxity | adducted thumb‐clubfoot syndrome | Marden‐Walker syndrome | craniofacial characteristics | skin laxity | recurrent subcutaneous hematomas | Congenital contractures | Adducted thumb-clubfoot syndrome | Skin laxity | Joint laxity | Malformation | Recurrent subcutaneous hematomas | Dermatan 4-O-sulfotransferase 1 deficiency | Marden-Walker syndrome | Craniofacial characteristics | Kyphoscoliosis | dermatan 4-O-sulfotransferase 1 deficiency | DEFECT | FOOT SYNDROME | adducted thumb-clubfoot syndrome | VIB | DERMATAN SULFATE | GENE | BIOSYNTHESIS | GENETICS & HEREDITY | MUTATIONS | CHST14 | MANIFESTATIONS | Sulfotransferases - genetics | Diagnosis, Differential | Humans | Connective Tissue Diseases - diagnosis | Molecular Sequence Data | Genotype | Tomography, X-Ray Computed | Sulfotransferases - deficiency | Arachnodactyly - diagnosis | Ehlers-Danlos Syndrome - genetics | Phenotype | Comparative Genomic Hybridization | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Base Sequence | Adolescent | Blepharophimosis - diagnosis | Facies | Brain - pathology | Female | Ehlers-Danlos Syndrome - diagnosis | Mutation | Spine - pathology | Physiological aspects | Skin | Ehlers-Danlos syndrome | Genes | Age
Journal Article
European Heart Journal, ISSN 0195-668X, 11/2014, Volume 35, Issue 41, pp. 2873 - 2926
Journal Article
Journal Article