Condition: PNEUMOTHORAX, PRIMARY SPONTANEOUS


rs398124542 in FLCN gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

rs137852929 in FLCN;MPRIP gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 25126726 2014 FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.

rs375082054 in MPRIP;FLCN gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 18505456 2008 Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

PMID 15657874 2005 A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

PMID 18579543 2008 Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.