Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Xiaocan HouYuan ZhouYun PengRong QiuKun XiaBeisha TangWei ZhuangJiang Hong

Published in: BMC medical genetics (2018)

Overall, The detection of these two mutations expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of Birt-Hogg-Dubé syndrome.

Keyphrases

copy number
case report
gene expression
smoking cessation
antiretroviral therapy
genome wide identification