Article
Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
BMC pulmonary medicine - 18 Sept 2022
Huang Jiannan, Xu Wenshuai, Liu Peng, Liu Yaping, Shen Cheng, Liu Song, Wang Yani, Wang Jun, Zhang Tengyue, He Yudi, Cheng Chongsheng, Yang Luning, Zhang Weihong, Tian Xinlun, Xu Kai-Feng
Abstract excerpt
BACKGROUND: Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2. This study serves to elucidate the mutation landscape and potential correlation between S-LAM genomic profiles and clinical phenotypes. METHODS: Genomic profiles of 22 S-LAM patients were obtained by sequencing genomic DNA and cell-free DNA from...
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