Article
OSGEP-associated Galloway-Mowat syndrome: a longitudinal genotype-phenotype correlation from prenatal imaging markers to lifespan neurologic-renal trajectories.
QJM : monthly journal of the Association of Physicians - 1 May 2026
Li Fake, Wang Yunan, Yang Chaoxiang, Fang Liyuan, Ding Hongke, Hong Shurong, Xu Xiaoyuan, Fan Shushu, Hu Rong, Shang Ning, Chang Yanqun, Wu Jing, Zhang Yan, Yin Aihua, Hou Lei
Abstract excerpt
BACKGROUND: Galloway-Mowat syndrome type 3 (GAMOS3) is a rare autosomal recessive disorder characterized by the co-occurrence of renal and neurological abnormalities in early childhood, caused by OSGEP gene variants. AIM: This study aims to characterize the genetic and phenotypic spectrum of GAMOS3 and evaluate correlations from prenatal imaging features to lifelong neurological and renal manifestations. METHOD:...
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