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Human Mutation, ISSN 1059-7794, 08/2010, Volume 31, Issue 8, pp. 966 - 974
Journal Article
BioMed Research International, ISSN 2314-6133, 2015, Volume 2015, pp. 861752 - 7
Glycosaminoglycans, including chondroitin, dermatan, and heparan sulfate, have various roles in a wide range of biological events such as cell signaling, cell... 
MEDICINE, RESEARCH & EXPERIMENTAL | CHONDROITIN SULFATE | PROTEOGLYCANS | GENE | IDURONIC ACID | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | LINKAGE REGION | GALACTOSYLTRANSFERASE-I BETA-4GALT-7 | HEPARAN-SULFATE | MOLECULAR-CLONING | EHLERS-DANLOS-SYNDROME | PROGEROID FORM | Humans | Joint Instability - genetics | Polydactyly - metabolism | Joint Instability - enzymology | Heparitin Sulfate - metabolism | Dermatan Sulfate - metabolism | Ehlers-Danlos Syndrome - genetics | Dwarfism - metabolism | Osteochondrodysplasias - enzymology | Osteochondrodysplasias - genetics | Ossification, Heterotopic - metabolism | Glycosyltransferases - genetics | Craniofacial Abnormalities - metabolism | Ehlers-Danlos Syndrome - enzymology | Craniofacial Abnormalities - genetics | Chondroitin - metabolism | Cell Proliferation - genetics | Polydactyly - genetics | Joint Instability - metabolism | Morphogenesis - genetics | Dwarfism - genetics | Ehlers-Danlos Syndrome - metabolism | Craniofacial Abnormalities - enzymology | Dwarfism - enzymology | Mutation | Ossification, Heterotopic - genetics | Ossification, Heterotopic - enzymology | Polydactyly - enzymology | Osteochondrodysplasias - metabolism | Physiological aspects | Development and progression | Dysplasia | Glycosaminoglycans | Heparan sulfate | Proteins | Enzymes | Cell growth | Acids | Fibroblasts | Biosynthesis | Review
Journal Article
Journal of Histochemistry & Cytochemistry, ISSN 0022-1554, 12/2012, Volume 60, Issue 12, pp. 916 - 925
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2011, Volume 155, Issue 8, pp. 1949 - 1958
Loss‐of‐function mutations in CHST14, dermatan 4‐O‐sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb‐clubfoot syndrome... 
dermatan 4‐O‐sulfotransferase 1 deficiency | malformations | congenital contractures | progressive multisystem fragility‐related manifestations | musculocontractural Ehlers–Danlos syndrome | adducted thumb‐clubfoot syndrome | Ehlers–Danlos syndrome Kosho type | Malformations | Musculocontractural Ehlers-Danlos syndrome | Congenital contractures | Adducted thumb-clubfoot syndrome | Ehlers-Danlos syndrome Kosho type | Dermatan 4-O-sulfotransferase 1 deficiency | Progressive multisystem fragility-related manifestations | dermatan 4-O-sulfotransferase 1 deficiency | ADDUCTED THUMB | CONTRACTURES | musculocontractural Ehlers-Danlos syndrome | DERMATAN-4-SULFOTRANSFERASE | adducted thumb-clubfoot syndrome | VIB | GENE | GENETICS & HEREDITY | CLUB FOOT SYNDROME | progressive multisystem fragility-related manifestations | MUTATIONS | CHST14 | JOINT | Sulfotransferases - genetics | Genetic Association Studies | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Sulfotransferases - deficiency | Ehlers-Danlos Syndrome - genetics | Phenotype | DNA Mutational Analysis | Clubfoot - surgery | Child | Cryptorchidism - genetics | Ehlers-Danlos Syndrome - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Heart | Ehlers-Danlos syndrome | Congenital defects | Central nervous system | Birth | Procollagen-lysine 5-dioxygenase | Kidney | Dislocation | Fibrillogenesis | Collagen | Hematoma | Skin | Children | Mutation | Joints | Age
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2008, Volume 17, Issue 7, pp. 996 - 1009
Journal Article
Journal Article
Journal Article