Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.
Xiao H et al.
Medicine, 2023
A novel mutation of the folliculin gene causing Birt-Hogg-Dubé syndrome as rare cause for secondary pneumothorax.
Vogl M et al.
Oxford Medical Case Reports, 2020
H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hasumi H et al.
Human Molecular Genetics, 2017
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