Article
A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family.
Human mutation - 1 Jan 2026
Huang Yuxin, Fu Jiahui, Gan Zhongzhi, Xiong Fu, Zhu Honglei, Yang Fang
Abstract excerpt
Background and Aims: MIRAGE syndrome is an autosomal-dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia. Methods: We performed clinical exome sequencing to identify the pathogenic loci in the family. Further functional...
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