A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review

Birt–Hogg–Dubé syndrome (BHDS, MIM #135150), caused by germline mutations of FLCN gene, is a rare autosomal dominant inherited disorder characterized by skin fibrofolliculomas, renal cancer, pulmonary cysts and spontaneous pneumothorax. The syndrome is considered to be under-diagnosed due to variabl...

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Detalles Bibliográficos
Autores principales: Cai, Minghui, Zhang, Xinxin, Fan, Lizhen, Cheng, Shuwen, Kiram, Abdukahar, Cen, Shaoqin, Chen, Baofu, Ye, Minhua, Gao, Qian, Zhu, Chengchu, Yi, Long, Ma, Dehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078137/
https://www.ncbi.nlm.nih.gov/pubmed/33927747
http://dx.doi.org/10.3389/fgene.2021.636900

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