Disease: Adducted thumb and clubfoot syndrome
- A case with adducted thumb and club foot syndrome
- A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thum
- Biological functions of iduronic acid in chondroitin/dermatan sulfate
- CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome
- Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase
- Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients
- Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
- DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability
- Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene
- Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome"
- Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome
- Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
- Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
- Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome
- Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome
- The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations