Associated Papers
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.
Mizumoto S et al.
Genes, 2023
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M et al.
Journal of Medical Genetics, 2022
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
Kosho T et al.
Genes, 2019
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho T
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Janecke AR et al.
American Journal of Medical Genetics. Part A, 2016
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Syx D et al.
Human Mutation, 2015
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2014
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.
Malfait F et al.
Human Mutation, 2010
Select a paper to view details