Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Jiannan HuangWenshuai XuPeng LiuYaping LiuCheng ShenSong LiuYani WangJun WangTengyue ZhangYudi HeChongsheng ChengLuning YangWeihong ZhangXinlun TianKai-Feng Xu

Published in: BMC pulmonary medicine (2022)

Tumor-driver mutations in genes other than TSC2 may have a role in S-LAM, and TBLB specimens are practical alternatives for genomic analysis. TSC2 mutation detectability and types are related to the disease severity and phenotypes of S-LAM.

Keyphrases

late onset
genome wide
gene expression
bioinformatics analysis
genome wide identification
transcription factor