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Article

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

American journal of medical genetics. Part A - 1 May 2019

Shalhub Sherene, Neptune Enid, Sanchez Desiree E, Dua Anahita, Arellano Nelson, McDonnell Nazli B, Milewicz Dianna M

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is a connective tissue disorder due to defective type III collagen production and is associated with arterial rupture, spontaneous intestinal perforation, and gravid uterine rupture. Spontaneous pneumothorax and/or hemothorax (P/HTX) also occurs in vEDS patients. The temporal relation of pulmonary manifestations to arterial and intestinal complications in vEDS has not been...

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Identifiers

PMID: 30793832
DOI: 10.1002/ajmg.a.61094

Genes

COL3A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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