A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early di...

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Detalles Bibliográficos
Autores principales: Xiao, Hua, Chi, Feng, Li, Shuai, Wang, Tao, Bai, Bin, Hou, Jia, Ge, Xiahui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
6700
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10328714/
https://www.ncbi.nlm.nih.gov/pubmed/37417625
http://dx.doi.org/10.1097/MD.0000000000034241

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