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
Published in:Front Genet
Main Authors: Zong, Dandan, Li, Jinhua, Liu, Xiangming, Guo, Ting, Ouyang, Ruoyun
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667195/
https://ncbi.nlm.nih.gov/pubmed/33240319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.565566
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