A novel COL3A1 variant associated with vascular Ehlers-Danlos syndrome in a patient presents as recurrent pneumothorax with cavities

T Guo; Y Liu; S Lvqiu; C Lei; W L He; Y Jiang; D Yang; R Wang; B Yang; C Lu; Y Xu; S Ding; L Wang; H Luo; H Peng

doi:10.1093/qjmed/hcad059

A novel COL3A1 variant associated with vascular Ehlers-Danlos syndrome in a patient presents as recurrent pneumothorax with cavities

QJM. 2023 Sep 12;116(8):691-693. doi: 10.1093/qjmed/hcad059.

Authors

T Guo^{1

2

3}, Y Liu^{1

2

3}, S Lvqiu^{1

2

3}, C Lei^{1

2

3}, W L He^{1

2

3}, Y Jiang⁴, D Yang^{1

2

3}, R Wang^{1

2

3}, B Yang^{1

2

3}, C Lu^{1

2

3}, Y Xu^{1

2

3}, S Ding^{1

2

3}, L Wang^{1

2

3}, H Luo^{1

2

3}, H Peng^{1

2

3}

Affiliations

¹ Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
² Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
³ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.
⁴ Department of Pathology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

PMID: 37074961
DOI: 10.1093/qjmed/hcad059

No abstract available

MeSH terms

Collagen Type III / genetics
Ehlers-Danlos Syndrome* / complications
Ehlers-Danlos Syndrome* / diagnosis
Ehlers-Danlos Syndrome* / genetics
Ehlers-Danlos Syndrome, Type IV*
Humans
Mutation
Pneumothorax* / diagnostic imaging
Pneumothorax* / etiology

Substances

COL3A1 protein, human
Collagen Type III

MeSH terms

Substances

Grants and funding