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A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

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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 Chine... ...