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 Wang Zhimiao 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
risk assessment
gene expression
dna methylation