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[Genetic diseases of epigenetic machinery].

Medecine sciences : M/S - 1 Dec 2024

de Dieuleveult Maud, Velasco Guillaume

Abstract excerpt

The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases (RDs). Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that...

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PMID: 39705562
DOI: 10.1051/medsci/2024181

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