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Article

DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.

European journal of medical genetics - 1 Apr 2020

Schirwani Schaida, Metcalfe Kay, Wagner Bart, Berry Ian, Sobey Glenda, Jewell Rosalyn

Abstract excerpt

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital malformations and progressive fragility of connective tissues. It is caused by pathogenic variants in CHST14 and DSE genes. There are three reports of pathogenic variants in DSE in four mcEDS patients. In this study we provide clinical and molecular...

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Identifiers

PMID: 31655143
DOI: 10.1016/j.ejmg.2019.103798

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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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