Article
Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.
QJM : monthly journal of the Association of Physicians - 27 May 2023
Li S, Li H, Liu D, Xing Q, Chen X, Zhang H, Wen J, Zhu H, Liang D, Li Z, Wu L
Abstract excerpt
BACKGROUND: Mendelian disorders of the epigenetic machinery (MDEMs) are a newly identified group of neurodevelopmental disorders (NDDs) and multiple congenital anomalies caused by mutations in genes encoding components of the epigenetic machinery. Many studies have shown that MDEM-associated mutations may disrupt the balance of chromatin states and trigger dysplasia. AIM: To help eight Chinese families with NDDs...
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