Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report

Birt-Hogg-Dubé (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. In this study, we reported a Chinese female BHD case and her family members with c.1579_1580insA variant in FLCN gene, who were characterized by diffused pulmonary cysts/bulla, and re...

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Detalles Bibliográficos
Autores principales: Tang, Shijie, Wei, Chuanqi, Wang, Xiaoyu, Xiao, Min, Luo, Fengming, Chen, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188955/
https://www.ncbi.nlm.nih.gov/pubmed/37206475
http://dx.doi.org/10.3389/fmed.2023.1184854

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