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Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Bin ZhangRui HeZigang XuYujuan SunLi WeiLi LiYuanxiang LiuWu GuoLi SongHuijun WangZhimiao LinLin Ma
Published 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.
Keyphrases
  • copy number
  • dna methylation
  • single molecule