Article
A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation.
Orphanet journal of rare diseases - 8 May 2021
Wang Shengcai, Wang Wei, Zhang Xuexi, Gui Jingang, Zhang Jie, Guo Yongli, Liu Yuanhu, Han Lin, Liu Qiaoyin, Li Yanzhen, Sun Nian, Liu Zhiyong, Du Jiangnan, Tai Jun, Ni Xin
Abstract excerpt
BACKGROUND: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic endothelial cell-autonomous defects, depending on the time in development at which PIK3CA gene mutation occurs....
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