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humans (67) 67
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1. Full Text Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dube Syndrome
by Toro, Jorge R and Pautler, Stephen E and Stewart, Laveta and Glenn, Gladys M and Weinreich, Michael and Toure, Ousmane and Wei, Ming-Hui and Schmidt, Laura S and Davis, Lewis and Zbar, Berton and Choyke, Peter and Steinberg, Seth M and Nguyen, Dao M and Linehan, W. Marston
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 05/2007, Volume 175, Issue 10, pp. 1044 - 1053
Rationale: Birt-Hogg-Dube syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung... 
Fibrofolliculomas | Lung cysts | Familial spontaneous pneumothorax | Renal neoplasms | Birt-Hogg-Dubé syndrome | FIBROSIS | KIDNEY NEOPLASIA | familial spontaneous pneumothorax | RISK | BHD GENE | TUMORS | lung cysts | fibrofolliculomas | RESPIRATORY SYSTEM | Birt-Hogg-Dube syndrome | MUTATIONS | INHERITANCE | renal neoplasms | CRITICAL CARE MEDICINE | Bronchogenic Cyst - genetics | Genetic Testing | Skin Diseases - genetics | Exons | Pneumothorax - epidemiology | Humans | Risk Factors | Pneumothorax - diagnosis | Genotype | Male | Proto-Oncogene Proteins - genetics | Bronchogenic Cyst - epidemiology | Syndrome | Proteins - genetics | Phenotype | Bronchogenic Cyst - diagnosis | DNA Mutational Analysis | Tumor Suppressor Proteins - genetics | Female | Pneumothorax - genetics | Mutation | Skin Diseases - epidemiology | Genetic Linkage | syndrome | E. Genetics | Birt-Hogg-Dubé
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2. Full Text Familial spontaneous pneumothorax
by Chiu, Hsienchang Thomas and Garcia, Christine Kim
Current Opinion in Pulmonary Medicine, ISSN 1070-5287, 07/2006, Volume 12, Issue 4, pp. 268 - 272
PURPOSE OF REVIEWOver 10% of patients with primary spontaneous pneumothorax report a positive family history of the disease. While some cases can be attributed... 
Folliculin | Familial spontaneous pneumothorax | Birt-Hogg-Dubé syndrome | LUNG | ALPHA1-ANTITRYPSIN DEFICIENCY | familial spontaneous pneumothorax | RENAL TUMORS | BHD GENE | PULMONARY-EMPHYSEMA | RESPIRATORY SYSTEM | MARFAN-SYNDROME | Birt-Hogg-Dube syndrome | HOGG-DUBE-SYNDROME | folliculin | MUTATIONS | INHERITANCE | EHLERS-DANLOS-SYNDROME | Proteins - genetics | Genetic Predisposition to Disease | Humans | Tumor Suppressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Pneumothorax - genetics | Mutation - genetics
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3. Full Text A 4-bp Deletion in the Birt-Hogg-Dubé Gene ( FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax
by Painter, Jodie N and Tapanainen, Hanna and Somer, Mirja and Tukiainen, Pentti and Aittomäki, Kristiina
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 3, pp. 522 - 527
Primary spontaneous pneumothorax (PSP), a condition in which air enters the pleural space and causes secondary lung collapse, is mostly sporadic but also... 
FAMILIAL SPONTANEOUS PNEUMOTHORAX | MUTATION | GENETICS & HEREDITY | RISK | BHD GENE | PULMONARY-DISEASE | CANCER | TUMORS | RENAL-CELL CARCINOMA | Sequence Deletion | Exons | Humans | Molecular Sequence Data | Male | DNA - genetics | Proteins - genetics | Phenotype | Genes, Dominant | Pedigree | Base Sequence | Finland | Female | Pneumothorax - genetics | Proto-Oncogene Proteins | Tumor Suppressor Proteins | Pneumothorax | Genetic aspects | Research | Report
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4. Full Text A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
by Zhang, Xinxin and Ma, Dehua and Zou, Wei and Ding, Yibing and Zhu, Chengchu and Min, Haiyan and Zhang, Bin and Wang, Wei and Chen, Baofu and Ye, Minhua and Cai, Minghui and Pan, Yanqing and Cao, Lei and Wan, Yueming and Jin, Yu and Gao, Qian and Yi, Long
Respiratory Research, ISSN 1465-9921, 05/2016, Volume 17, Issue 1, p. 64
Background: Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by... 
BHD syndrome | FLCN | Targeted next generation sequencing | CNV analysis | Primary spontaneous pneumothorax | MULTIPLE LUNG CYSTS | KIDNEY NEOPLASIA | INTRAGENIC DELETIONS | FLCN GENE | RESPIRATORY SYSTEM | FAMILIAL SPONTANEOUS PNEUMOTHORAX | FRAMEWORK | DNA-SEQUENCING DATA | HOMOCYSTINURIA | MUTATION DATABASE | EHLERS-DANLOS-SYNDROME | Birt-Hogg-Dube Syndrome - diagnosis | Humans | Computational Biology | Pneumothorax - diagnosis | Male | Proto-Oncogene Proteins - genetics | Gene Dosage | Pneumothorax - complications | Mutation - genetics | Birt-Hogg-Dube Syndrome - genetics | DNA - genetics | Gene Amplification | Birt-Hogg-Dube Syndrome - complications | Gene Deletion | Tumor Suppressor Proteins - genetics | Adult | Female | Pneumothorax - genetics | Polymorphism, Single Nucleotide | High-Throughput Nucleotide Sequencing - methods | Quality Control | Research
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5. Novel mutations in the folliculin gene associated with spontaneous pneumothorax
by Fröhlich, B.A and Zeitz, C and Mátyás, G and Alkadhi, H and Tuor, C and Berger, W and Russi, E.W
European Respiratory Journal, ISSN 0903-1936, 11/2008, Volume 32, Issue 5, pp. 1316 - 1320
Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt-Hogg-Dube syndrome, which is caused by... 
Pneumothorax | Mutation | Folliculin gene | Familial pneumothorax | mutation | POLYMORPHISMS | RESPIRATORY SYSTEM | HOGG-DUBE-SYNDROME | folliculin gene | INHERITANCE | pneumothorax | Estrone - genetics | Genetic Predisposition to Disease | Lung - pathology | Exons | Humans | Middle Aged | Family Health | Male | Tomography, X-Ray Computed | DNA Mutational Analysis | Pedigree | Adult | Female | Pneumothorax - genetics
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6. Full Text Additional Minocycline Pleurodesis after Thoracoscopic Surgery for Primary Spontaneous Pneumothorax
by Chen, Jin-Shing and Hsu, Hsao-Hsun and Chen, Robert J and Kuo, Shuenn-Wen and Huang, Pei-Ming and Tsai, Pi-Ru and Lee, Jang-Ming and Lee, Yung-Chie
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 03/2006, Volume 173, Issue 5, pp. 548 - 554
Rationale: Ipsilateral recurrence rates of spontaneous pneumothorax after video-assisted thoracoscopic surgery are higher than rates after open thoracotomy.... 
Minocycline | Pleurodesis | Thoracoscopy | Primary spontaneous pneumothorax | MANAGEMENT | EFFICACY | DRAINAGE | TALC PLEURODESIS | pleurodesis | PULMONARY-FUNCTION | thoracoscopy | RESPIRATORY SYSTEM | minocycline | primary spontaneous pneumothorax | FAMILIAL SPONTANEOUS PNEUMOTHORAX | EXPERIENCE | TETRACYCLINE | ASSISTED THORACIC-SURGERY | CRITICAL CARE MEDICINE | Chest Pain - prevention & control | Pneumothorax - prevention & control | Recurrence | Chest Pain - etiology | Pleurodesis - methods | Humans | Adult | Female | Male | Minocycline - administration & dosage | Thoracic Surgery, Video-Assisted - adverse effects | Pneumothorax - etiology
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7. Full Text Nonsense Mutations in Folliculin Presenting as Isolated Familial Spontaneous Pneumothorax in Adults
by Graham, Randall B and Nolasco, Melissa and Peterlin, Borut and Garcia, Christine Kim
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 07/2005, Volume 172, Issue 1, pp. 39 - 44
Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. Objectives: We sought to identify DNA sequence variations... 
Genetics | BHD (Birt-Hogg-Dubé) protein, human | Pulmonary emphysema | Pneumothorax, familial | LUNG | pulmonary emphysema | pneumothorax, familial | KIDNEY NEOPLASIA | RISK | BHD GENE | CANCER | TUMORS | RENAL-CELL CARCINOMA | genetics | RESPIRATORY SYSTEM | BHD (Birt-Hogg-Dube) protein, human | HOGG-DUBE-SYNDROME | INHERITANCE | CRITICAL CARE MEDICINE | Haplotypes | Estrone - genetics | Humans | Middle Aged | Male | Codon, Nonsense | Proteins - genetics | Sequence Analysis, RNA | Genes, Dominant | Polymorphism, Restriction Fragment Length | Pedigree | Pulmonary Emphysema - genetics | Adult | Female | Surveys and Questionnaires | Pneumothorax - genetics | Proto-Oncogene Proteins | Longitudinal Studies | Tumor Suppressor Proteins
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8. Full Text Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax
by Xing, Huajie and Liu, Yanguo and Jiang, Guanchao and Li, Xiao and Hou, Yanyan and Yang, Fan and Wang, Jun
Journal of Thoracic Disease, ISSN 2072-1439, 07/2017, Volume 9, Issue 7, pp. 1967 - 1972
Background: Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dube (BHD) syndrome is its leading cause. BHD syndrome is an... 
Birt-Hogg-Dubé syndrome (BHD syndrome) | Familial spontaneous pneumothorax (FSP) | FLCN gene | Birt-Hogg-Dube syndrome (BHD syndrome) | RESPIRATORY SYSTEM | MULTIPLE LUNG CYSTS | FLCN-GENE | HOGG-DUBE-SYNDROME | COHORT | familial spontaneous pneumothorax (FSP) | MUTATIONS | SPECTRUM | DELETION | Original
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9. Full Text Distinguishing the histological and radiological features of cystic lung disease in Birt–Hogg–Dubé syndrome from those of tobacco‐related spontaneous pneumothorax
by Fabre, Aurelie and Borie, Raphael and Debray, Marie Pierre and Crestani, Bruno and Danel, Claire
Histopathology, ISSN 0309-0167, 04/2014, Volume 64, Issue 5, pp. 741 - 749
Aims Birt–Hogg–Dubé syndrome (BHD) is a rare autosomal dominantly inherited genodermatosis that predisposes to cystic lung disease, leading to spontaneous... 
lung | tobacco | pathology | computed tomography thorax | Birt–Hogg–Dubé syndrome | cysts | Pathology | Tobacco | Cysts | Computed tomography thorax | Birt-Hogg-Dubé syndrome | Lung | DIAGNOSIS | BHD GENE | ACROCHORDONS | CELL BIOLOGY | TRICHODISCOMAS | FIBROFOLLICULOMAS | FAMILIAL SPONTANEOUS PNEUMOTHORAX | MUTATION | DIFFUSE | Birt-Hogg-Dube syndrome | PATIENT | Smoking - adverse effects | Diagnosis, Differential | Birt-Hogg-Dube Syndrome - diagnostic imaging | Lung Diseases - diagnosis | Birt-Hogg-Dube Syndrome - diagnosis | Humans | Middle Aged | Birt-Hogg-Dube Syndrome - pathology | Pneumothorax - diagnosis | Male | Tomography, X-Ray Computed | Lung Diseases - diagnostic imaging | Cysts - pathology | Case-Control Studies | Pneumothorax - pathology | Pneumothorax - diagnostic imaging | Cysts - diagnostic imaging | Adult | Female | Retrospective Studies | Cysts - diagnosis | Lung Diseases - pathology
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10. Full Text Mutation analysis of the FLCN gene in Chinese patients with sporadic and amilial isolated primary spontaneous pneumothorax
by Ren, HZ and Zhu, CC and Yang, C and Chen, SL and Xie, J and Hou, YY and Xu, ZF and Wang, DJ and Mu, DK and Ma, DH and Wang, Y and Ye, MH and Ye, ZR and Chen, BF and Wang, CG and Lin, J and Qiao, D and Yi, L
CLINICAL GENETICS, ISSN 0009-9163, 08/2008, Volume 74, Issue 2, pp. 178 - 183
Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dube syndrome caused by folliculin gene (FLCN) mutation, which is also found in... 
mutation | primary spontaneous pneumothorax | FAMILIAL SPONTANEOUS PNEUMOTHORAX | KIDNEY NEOPLASIA | GENETICS & HEREDITY | HOGG-DUBE-SYNDROME | RISK | FLCN gene | RECURRENCE | LUNG CYSTS | DELETION
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11. Full Text The Genetics of Pneumothorax
by Boone, PM and Scott, RM and Marciniak, SJ and Henske, EP and Raby, BA
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 06/2019, Volume 199, Issue 11, pp. 1344 - 1357
A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: 1)... 
SERUM VEGF-D | ALPHA1-ANTITRYPSIN DEFICIENCY | familial spontaneous pneumothorax | COMPUTED-TOMOGRAPHY | pneumothorax | genetics | PLEURAL DISEASE | RESPIRATORY SYSTEM | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | Birt-Hogg-Dube syndrome | HOGG-DUBE-SYNDROME | FLCN gene | CYSTIC-FIBROSIS | EHLERS-DANLOS-SYNDROME | SYNDROME TYPE-IV | CRITICAL CARE MEDICINE | Medicine | Genotype & phenotype | Hospitals | Cysts | Lung diseases | Genes | Tomography | Cystic fibrosis | Genetics | Family medical history | Mutation | Marfan syndrome
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12. Full Text A Case of Familial Spontaneous Pneumothorax
by Fumihiko KAMEZAKI and and Shinjo SONODA and Shinichiro KOIDE and Yutaka OTSUJI and School of Medicine and The Second Department of Internal Medicine and Division of Internal Medicine and Araiyadai Clinic and University of Occupational and Environmental Health and Japan Atomic Energy Agency
Journal of UOEH, ISSN 0387-821X, 2009, Volume 31, Issue 2, pp. 167 - 172
Abstract : We experienced a case of familial spontaneous pneumothorax (SP) without apparent underlying connective tissue disease. A 30-year-old man was... 
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13. Full Text A case of familial spontaneous pneumothorax
by Kamezaki, Fumihiko and Sonoda, Shinjo and Koide, Shinichiro and Otsuji, Yutaka
Journal of UOEH, ISSN 0387-821X, 2009, Volume 31, Issue 2, pp. 167 - 172
We experienced a case of familial spontaneous pneumothorax (SP) without apparent underlying connective tissue disease. A 30-year-old man was referred to our... 
Familial spontaneous pneumothorax | Lung cyst | Autosomal dominant inheritance | Genes, Dominant | Pedigree | Humans | Adult | Female | Male | Pneumothorax - genetics
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14. Full Text Familial spontaneous pneumothorax in neonates
by Singh, Soraisham Amuchou and Amin, Harish
The Indian Journal of Pediatrics, ISSN 0019-5456, 5/2005, Volume 72, Issue 5, pp. 445 - 447
Spontaneous pneumothorax is a recognised cause of respiratory distress in the neonatal period. Spontaneous pneumothorax occurring during the neonatal period in... 
Pediatrics | Neonate | Newborn | Medicine & Public Health | Gynecology | Familial | Spontaneous pneumothorax | Genetic Predisposition to Disease | Respiratory Distress Syndrome, Newborn - diagnosis | Humans | Pneumothorax - diagnosis | Male | Treatment Outcome | Pneumothorax - complications | Respiratory Distress Syndrome, Newborn - therapy | Respiratory Distress Syndrome, Newborn - etiology | Female | Pneumothorax - therapy | Pneumothorax - genetics | Infant, Newborn
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15. Full Text Birt-Hogg-Dubé syndrome: diagnosis and management
by Menko, Fred H, Dr and van Steensel, Maurice AM, MD and Giraud, Sophie, MD and Friis-Hansen, Lennart, MD and Richard, Stéphane, Prof and Ungari, Silvana, MD and Nordenskjöld, Magnus, Prof and Hansen, Thomas vO, MSc and Solly, John, PhD and Maher, Eamonn R, Prof and European BHD Consortium
Lancet Oncology, ISSN 1470-2045, 2009, Volume 10, Issue 12, pp. 1199 - 1206
Summary Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous... 
Hematology, Oncology and Palliative Medicine | GERMLINE MUTATION | ONCOLOGY | FAMILIAL SPONTANEOUS PNEUMOTHORAX | MTOR ACTIVATION | NIHON RAT MODEL | BHD GENE | FLCN GENE | RENAL-CELL CARCINOMA | CANCER-RISKS | LUNG CYSTS | MULTIPLE FIBROFOLLICULOMAS | Kidney Neoplasms - genetics | Skin Diseases - therapy | Genetic Testing | Lung Diseases - diagnosis | Skin Diseases - genetics | Humans | Pneumothorax - diagnosis | Proto-Oncogene Proteins - genetics | Lung Diseases - therapy | Syndrome | Kidney Neoplasms - diagnosis | Cysts - therapy | Skin Diseases - diagnosis | Lung Diseases - genetics | Tumor Suppressor Proteins - genetics | Cysts - genetics | Germ-Line Mutation | Pneumothorax - therapy | Pneumothorax - genetics | Cysts - diagnosis | Kidney Neoplasms - therapy
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16. Investigation of the HLA class I antigens in patients with primary spontaneous pneumothorax
by Balci, AE and Etem, EO and Cakmak, M and Elyas, H and Ozyurtkan, MO
TURKISH JOURNAL OF MEDICAL SCIENCES, ISSN 1300-0144, 12/2010, Volume 40, Issue 6, pp. 865 - 869
Aim: There is no report investigating the human leukocyte antigen system (HLA) class I alleles and haplotypes in the patients with primary spontaneous... 
SYSTEM | MEDICINE, GENERAL & INTERNAL | Pneumothorax | ALLELES | FAMILIAL SPONTANEOUS PNEUMOTHORAX | 2 PARTS | INHERITANCE | Antibody/antigen | Genes/polymorphism
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17. Full Text Management of Pneumothorax
by Haynes, Demondes and Baumann, Michael H
Seminars in Respiratory and Critical Care Medicine, ISSN 1069-3424, 12/2010, Volume 31, Issue 6, pp. 769 - 780
ABSTRACT Pneumothoraces are classified as spontaneous, traumatic, and iatrogenic. Spontaneous pneumothoraces (SPs) occur without recognized lung disease... 
iatrogenic | traumatic | Pneumothorax | spontaneous | management | THORACIC COMPUTED-TOMOGRAPHY | RISK-FACTORS | SEVERELY INJURED PATIENTS | RESPIRATORY-DISTRESS-SYNDROME | TRANSTHORACIC NEEDLE-BIOPSY | DISEASE GUIDELINE 2010 | INTENSIVE-CARE-UNIT | RESPIRATORY SYSTEM | FAMILIAL SPONTANEOUS PNEUMOTHORAX | CHEST TUBE PLACEMENT | PERSISTENT AIR-LEAK | CRITICAL CARE MEDICINE | Catheterization - methods | Catheterization - instrumentation | Humans | Chest Tubes | Pneumothorax - etiology | Wounds, Penetrating - complications | Drainage - instrumentation | Drainage - methods | Pneumothorax - therapy | Lung Diseases - complications | Iatrogenic Disease | Thoracic Injuries - complications | Practice Guidelines as Topic
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18. Full Text Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance
by Morrison, P J and Lowry, R C and Nevin, N C
Thorax, ISSN 0040-6376, 02/1998, Volume 53, Issue 2, pp. 151 - 152
A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently... 
Autosomal dominant | Pneumothorax | Familial | familial | autosomal dominant | RESPIRATORY SYSTEM | MARFAN-SYNDROME | pneumothorax
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19. Full Text Familial spontaneous pneumothorax in neonates
by Engdahl, Margaret Scandura and Gershan, William M
Pediatric Pulmonology, ISSN 8755-6863, 06/1998, Volume 25, Issue 6, pp. 398 - 400
spontaneous pneumothorax | familial | neonate | Spontaneous pneumothorax | Familial | Neonate | PEDIATRICS | RESPIRATORY SYSTEM | Phenotype | Pedigree | Humans | Pneumothorax - physiopathology | Adult | Female | Male | Pneumothorax - genetics | Infant, Newborn | Lung Volume Measurements
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20. Full Text Primary Spontaneous Pneumothorax in Two Siblings Suggests Autosomal Recessive Inheritance
by Koivisto, Pasi A and Mustonen, Aki
Chest, ISSN 0012-3692, 05/2001, Volume 119, Issue 5, pp. 1610 - 1612
We report on a sister and brother with recurrent spontaneous pneumothorax without underlying connective tissue disease and without other affected relatives.... 
spontaneous pneumothorax | inheritance | autosomal recessive | Spontaneous pneumothorax | Autosomal recessive | Inheritance | CARDIAC & CARDIOVASCULAR SYSTEMS | RESPIRATORY SYSTEM | FAMILIAL SPONTANEOUS PNEUMOTHORAX | Recurrence | Pedigree | Humans | Adult | Female | Male | Pneumothorax - genetics | Genes, Recessive | Pneumothorax | Genetic aspects | Research | Familial diseases
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