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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.
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 Type: Article Affiliation country: China
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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 Type: Article Affiliation country: China