Article

Genetic Insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations in <i>FLCN</i>

2021-11-04

Abstract excerpt

<h4>Background</h4> Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN . It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma. Here, we comprehensively studied germline mutations in BHDS patients and asymptomatic members from 15 Indian families. <h4>Methods</h4> Targ...

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Literature Corpus work: 4a3b7e2a-09e1-50c0-b402-6832d054375d
DOI: 10.1101/2021.10.31.21264930

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