Article
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.
Journal of medical genetics - 27 Nov 2023
Pan Hong-Hong, Ruan Dan-Dan, Wu Min, Chen Ting, Lu Tao, Gan Yu-Mian, Wang Chen, Liao Li-Sheng, Lin Xin-Fu, Chen Xin, Zhu Yao-Bin, Fang Zhu-Ting, Yu Qing-Hua, Yang Guo-Kai, Ye Lie-Fu, Luo Jie-Wei
Abstract excerpt
To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg-Dubé (BHD) syndrome have been reported, with low incidence. Here, we describe a patient with suspected rare HLRCC complicated by BHD syndrome. The proband (II1) had characteristic cutaneous leiomyoma-like protrusions on the neck and back, a left renal mass and multiple right renal, liver...
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