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Article

Genetic analysis of familial spontaneous pneumothorax in an Indian family.

Lung - 1 Jun 2015

Ray Anindita, Paul Suman, Chattopadhyay Esita, Kundu Susmita, Roy Bidyut

Abstract excerpt

Familial spontaneous pneumothorax is one of the phenotypes of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition associated with folliculin (FLCN). We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skin lesions or renal tumors. HRCT scan of patient's lung revealed paracardiac cysts, and DNA sequencing of all 14...

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Source

Identifiers

PMID: 25827758
DOI: 10.1007/s00408-015-9723-9

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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