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

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

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

Affiliation

Guo T; Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
Liu Y; Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
Lvqiu S; Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.
Lei C; Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
He WL; Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
Jiang Y; Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.
Yang D; Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
Wang R; Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
Yang B; Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.
Lu C; Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
Xu Y; Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
Ding S; Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.
Wang L; Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
Luo H; Research Unit of Respiratory Disease, Central South University, Changsha, Hunan 410011, China.
Peng H; Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan 410011, China.

QJM ; 116(8): 691-693, 2023 09 12.

Article in En | MEDLINE | ID: mdl-37074961

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pneumothorax / Ehlers-Danlos Syndrome / Ehlers-Danlos Syndrome, Type IV Type of study: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limits: Humans Language: En Journal: QJM Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: China Country of publication: Reino Unido

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