Associated Papers
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).
Kawakita M et al.
Genes, 2023
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
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
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