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

CONCLUSIONS: We found 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.PMID:38489583 | DOI:10.1093/bjd/ljae108

Source: The British Journal of Dermatology - March 15, 2024 Category: Dermatology Authors: Xingyuan Jiang Chao Yang Zhaoyang Wang Lina Liang Zhuoqing Gong Shimiao Huang Zigang Xu Bin Zhang Xiaoping Pei Liangqi Cai Huijun Wang Zhimiao Lin Source Type: research