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Journal Article
Current Opinion in Pulmonary Medicine, ISSN 1070-5287, 07/2006, Volume 12, Issue 4, pp. 268 - 272
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 3, pp. 522 - 527
Journal Article
Journal Article
European Respiratory Journal, ISSN 0903-1936, 11/2008, Volume 32, Issue 5, pp. 1316 - 1320
Journal Article
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
Journal Article
Journal Article
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
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 06/2019, Volume 199, Issue 11, pp. 1344 - 1357
Journal Article
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... 
Journal Article
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
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 5/2005, Volume 72, Issue 5, pp. 445 - 447
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article