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

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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Bibliographic Details
Main Authors: Minghui Cai, Xinxin Zhang, Lizhen Fan, Shuwen Cheng, Abdukahar Kiram, Shaoqin Cen, Baofu Chen, Minhua Ye, Qian Gao, Chengchu Zhu, Long Yi, Dehua Ma
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Genetics
Subjects:
BHD syndrome
FLCN gene
large intragenic deletion
targeted NGS
MLPA
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.636900/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.636900/full

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