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Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.

Xingyuan JiangChao YangZhaoyang WangLina LiangZhuoqing GongShimiao HuangZigang XuBin ZhangXiaoping PeiLiangqi CaiHuijun WangZhimiao Lin
Published in: The British journal of dermatology (2024)
We found that loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. Our study implicates a potential role of glomulin in human skin melanogenesis, in addition to vascular morphogenesis.
Keyphrases
  • copy number
  • soft tissue
  • wound healing
  • gene expression
  • risk assessment
  • human health
  • genome wide