Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt–Hogg–Dubé Syndrome (Hornstein-Knickenberg Syndrome)

Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt–Hogg–Dubé Syndrome (Hornstein-Knickenberg Syndrome)

Birt–Hogg–Dubé syndrome (BHDS), which is also called Hornstein-Knickenberg syndrome (HKS), is a hereditary autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN, NM_144997). More pulmonary manifestations (pulmonary cysts and recurrent pneumothoraxes) but fewer skin fi...

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Bibliographic Details
Main Authors: Dandan Zong, Jinhua Li, Xiangming Liu, Ting Guo, Ruoyun Ouyang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
pneumothorax
folliculin
Birt–Hogg–Dubé syndrome
pulmonary cysts
Hornstein-Knickenberg syndrome
variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.565566/full

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