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
34815299 (PubMed )
Supplement: jmedgenet-2020-107623supp003.xlsx › Sheet1
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Syx D et al.
Human Mutation, 2015
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