Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN

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 comprehen...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044636/
https://www.ncbi.nlm.nih.gov/pubmed/35477461
http://dx.doi.org/10.1186/s13023-022-02326-5

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