Associated Papers
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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
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