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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnosti...

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnosti...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10326011

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

About this item

Full title

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.749-760

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the
COL3A1
gene. Associated tissue fragility affects multiple organ systems, increasing the risk of blood vessel dissection and...

Alternative Titles

Full title

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10326011

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10326011

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/s41431-023-01343-7

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