Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Bin ZhangRui HeZigang XuYujuan SunLi WeiLi LiYuanxiang LiuWu GuoLi SongHuijun WangZhimiao LinLin MaPublished in: Orphanet journal of rare diseases (2023)
The somatic mutation spectrum of vascular malformations in Chinese population is similar to that reported in other populations, but non-hotspot PIK3CA mutations may also be prevalent. Molecular diagnosis may help the clinical diagnosis, treatment and management of these pediatric patients with vascular malformations.