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Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Genes - 29 Dec 2019

Kosho Tomoki, Mizumoto Shuji, Watanabe Takafumi, Yoshizawa Takahiro, Miyake Noriko, Yamada Shuhei

Abstract excerpt

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 patients from 28 families with mcEDS-CHST14 and five patients from four families with mcEDS-DSE have been described in...

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Identifiers

PMID: 31905796
DOI: 10.3390/genes11010043
PMCID: PMC7017038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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