Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE). Thus far, 41 patie...

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Bibliographic Details
Published in:Genes (Basel)
Main Authors: Kosho, Tomoki, Mizumoto, Shuji, Watanabe, Takafumi, Yoshizawa, Takahiro, Miyake, Noriko, Yamada, Shuhei
Format: Artigo
Language:Inglês
Published: MDPI 2019
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017038/
https://ncbi.nlm.nih.gov/pubmed/31905796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11010043
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