Article
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
Orphanet journal of rare diseases - 27 Apr 2022
Ray Anindita, Chattopadhyay Esita, Singh Richa, Ghosh Saurabh, Bera Arnab, Sarma Mridul, Munot Mahavir, Desai Unnati, Rajan Sujeet, Prabhudesai Pralhad, Prakash Ashish K, Roy Chowdhury Sushmita, Bhowmick Niladri, Dhar Raja, Udwadia Zarir F, Dey Atin, Mitra Subhra, Joshi Jyotsna M, Maitra Arindam, Roy Bidyut
Abstract excerpt
BACKGROUND: 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 (chromophobe). Here, we comprehensively studied the mutational background of 31 clinically diagnosed BHDS patients and their 74 asymptomatic related...
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